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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
7520 27-35 GeneOrGeneProduct denotes TSH-beta NCBIGene:7252
7521 60-93 DiseaseOrPhenotypicFeature denotes congenital central hypothyroidism MESH:D003409
7522 119-122 GeneOrGeneProduct denotes TSH NCBIGene:7252
7523 143-151 OrganismTaxon denotes Patients NCBITaxon:9606
7524 157-165 GeneOrGeneProduct denotes TSH-beta NCBIGene:7252
7525 186-211 DiseaseOrPhenotypicFeature denotes congenital hypothyroidism MESH:D003409
7526 226-229 GeneOrGeneProduct denotes TSH NCBIGene:7252
7527 395-403 GeneOrGeneProduct denotes TSH-beta NCBIGene:7252
7528 430-438 OrganismTaxon denotes patients NCBITaxon:9606
7529 444-477 DiseaseOrPhenotypicFeature denotes congenital central hypothyroidism MESH:D003409
7530 515-521 DiseaseOrPhenotypicFeature denotes anemia MESH:D000740
7531 532-539 OrganismTaxon denotes Patient NCBITaxon:9606
7532 559-565 SequenceVariant denotes G to A c|SUB|G||A
7533 978-985 OrganismTaxon denotes patient NCBITaxon:9606
7534 1066-1073 SequenceVariant denotes 313delT c|DEL|313|T
7535 1075-1086 SequenceVariant denotes C105Vfs114X p|FS|C|105|V|114
7536 1153-1192 SequenceVariant denotes G for A at cDNA nucleotide position 323 c|SUB|G|323|A
7537 1209-1213 SequenceVariant denotes C88Y p|SUB|C|88|Y
7538 1299-1333 GeneOrGeneProduct denotes glycoprotein hormone-beta subunits NCBIGene:122876
7539 1383-1387 SequenceVariant denotes C88Y p|SUB|C|88|Y
7540 1519-1523 SequenceVariant denotes C88Y p|SUB|C|88|Y
7541 1580-1594 DiseaseOrPhenotypicFeature denotes TSH deficiency MESH:D007037
7542 1656-1685 DiseaseOrPhenotypicFeature denotes isolated pituitary deficiency MESH:C566321
7543 1760-1782 DiseaseOrPhenotypicFeature denotes central hypothyroidism MESH:D007037
7544 1833-1839 DiseaseOrPhenotypicFeature denotes anemia MESH:D000740

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-133 Sentence denotes Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
T2 134-142 Sentence denotes CONTEXT:
T3 143-255 Sentence denotes Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening.
T4 256-266 Sentence denotes OBJECTIVE:
T5 267-522 Sentence denotes Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital central hypothyroidism and conventional treatment-resistant anemia.
T6 523-531 Sentence denotes RESULTS:
T7 532-629 Sentence denotes Patient 1 had a homozygous G to A nucleotide change at the 5' donor splice site of exon/intron 2.
T8 630-697 Sentence denotes This resulted in a silent change at codon 34 of the mature protein.
T9 698-838 Sentence denotes In vitro splicing assays showed that the mutant minigene dramatically affected pre-mRNA processing, causing exon 2 to be completely skipped.
T10 839-974 Sentence denotes The putative product from a new out-of-frame translational start point in exon 3 is expected to yield a nonsense 25-amino-acid peptide.
T11 975-1221 Sentence denotes In patient 2, sequence analysis revealed a compound heterozygosis for the already reported 313delT (C105Vfs114X) mutation and for a second novel mutation in exon 3, substituting G for A at cDNA nucleotide position 323, resulting in a C88Y change.
T12 1222-1334 Sentence denotes This cysteine residue is conserved among all dimeric pituitary and placental glycoprotein hormone-beta subunits.
T13 1335-1431 Sentence denotes Data from in silico analysis confirmed that the C88Y mutation would affect subunit conformation.
T14 1432-1554 Sentence denotes Indeed, two different bioinformatics approaches, PolyPhen and SIFT analysis, predicted C88Y to be a damaging substitution.
T15 1555-1567 Sentence denotes CONCLUSIONS:
T16 1568-1736 Sentence denotes In isolated TSH deficiency, the exact molecular diagnosis is mandatory for diagnosis of isolated pituitary deficiency, delineation of prognosis, and genetic counseling.
T17 1737-1862 Sentence denotes Moreover, diagnosis of central hypothyroidism should be considered in the face of severe infant anemia of uncertain etiology.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 515-521 OrganismTaxon denotes anemia NCBItxid:12939
T2 666-671 OrganismTaxon denotes codon NCBItxid:79338
T3 1289-1298 OrganismTaxon denotes placental NCBItxid:9347
T4 1833-1839 OrganismTaxon denotes anemia NCBItxid:12939

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 60-70 DiseaseOrPhenotypicFeature denotes congenital 0021140
T2 79-93 DiseaseOrPhenotypicFeature denotes hypothyroidism 0005420
T3 186-211 DiseaseOrPhenotypicFeature denotes congenital hypothyroidism 0018612
T4 186-196 DiseaseOrPhenotypicFeature denotes congenital 0021140
T5 197-211 DiseaseOrPhenotypicFeature denotes hypothyroidism 0005420
T6 444-454 DiseaseOrPhenotypicFeature denotes congenital 0021140
T7 463-477 DiseaseOrPhenotypicFeature denotes hypothyroidism 0005420
T8 515-521 DiseaseOrPhenotypicFeature denotes anemia 0002280
T9 819-829 DiseaseOrPhenotypicFeature denotes completely 0700063
T10 1665-1685 DiseaseOrPhenotypicFeature denotes pituitary deficiency 0015127
T11 1768-1782 DiseaseOrPhenotypicFeature denotes hypothyroidism 0005420
T12 1833-1839 DiseaseOrPhenotypicFeature denotes anemia 0002280

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1066-1073 SequenceVariant denotes 313delT
T2 1209-1213 SequenceVariant denotes C88Y
T3 1383-1387 SequenceVariant denotes C88Y
T4 1519-1523 SequenceVariant denotes C88Y

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 4-9 GeneOrGeneProduct denotes novel
T2 10-19 GeneOrGeneProduct denotes mutations
T3 27-35 GeneOrGeneProduct denotes TSH-beta
T4 157-165 GeneOrGeneProduct denotes TSH-beta
T5 174-181 GeneOrGeneProduct denotes defects
T6 216-222 GeneOrGeneProduct denotes missed
T7 230-235 GeneOrGeneProduct denotes based
T8 327-332 GeneOrGeneProduct denotes novel
T9 333-339 GeneOrGeneProduct denotes splice
T10 349-357 GeneOrGeneProduct denotes mutation
T11 364-369 GeneOrGeneProduct denotes novel
T12 370-378 GeneOrGeneProduct denotes missense
T13 379-387 GeneOrGeneProduct denotes mutation
T14 395-403 GeneOrGeneProduct denotes TSH-beta
T15 542-547 GeneOrGeneProduct denotes had a
T16 600-606 GeneOrGeneProduct denotes splice
T17 644-648 GeneOrGeneProduct denotes in a
T18 689-696 GeneOrGeneProduct denotes protein
T19 707-715 GeneOrGeneProduct denotes splicing
T20 739-745 GeneOrGeneProduct denotes mutant
T21 777-796 GeneOrGeneProduct denotes pre-mRNA processing
T22 830-837 GeneOrGeneProduct denotes skipped
T23 843-859 GeneOrGeneProduct denotes putative product
T24 871-874 GeneOrGeneProduct denotes out
T25 898-903 GeneOrGeneProduct denotes start
T26 904-909 GeneOrGeneProduct denotes point
T27 935-940 GeneOrGeneProduct denotes yield
T28 961-965 GeneOrGeneProduct denotes acid
T29 1088-1096 GeneOrGeneProduct denotes mutation
T30 1114-1119 GeneOrGeneProduct denotes novel
T31 1120-1128 GeneOrGeneProduct denotes mutation
T32 1164-1168 GeneOrGeneProduct denotes cDNA
T33 1204-1208 GeneOrGeneProduct denotes in a
T34 1247-1256 GeneOrGeneProduct denotes conserved
T35 1263-1266 GeneOrGeneProduct denotes all
T36 1299-1311 GeneOrGeneProduct denotes glycoprotein
T37 1312-1319 GeneOrGeneProduct denotes hormone
T38 1320-1324 GeneOrGeneProduct denotes beta
T39 1388-1396 GeneOrGeneProduct denotes mutation
T40 1481-1489 GeneOrGeneProduct denotes PolyPhen
T41 1509-1518 GeneOrGeneProduct denotes predicted
T42 1532-1540 GeneOrGeneProduct denotes damaging
T43 1811-1815 GeneOrGeneProduct denotes face

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 4-9 GeneOrGeneProduct denotes novel
T2 27-35 GeneOrGeneProduct denotes TSH-beta
T3 157-165 GeneOrGeneProduct denotes TSH-beta
T4 327-332 GeneOrGeneProduct denotes novel
T5 364-369 GeneOrGeneProduct denotes novel
T6 395-403 GeneOrGeneProduct denotes TSH-beta
T7 689-696 GeneOrGeneProduct denotes protein
T8 739-745 GeneOrGeneProduct denotes mutant
T9 777-796 GeneOrGeneProduct denotes pre-mRNA processing
T10 843-859 GeneOrGeneProduct denotes putative product
T11 898-903 GeneOrGeneProduct denotes start
T12 961-965 GeneOrGeneProduct denotes acid
T13 1114-1119 GeneOrGeneProduct denotes novel
T14 1164-1168 GeneOrGeneProduct denotes cDNA
T15 1247-1256 GeneOrGeneProduct denotes conserved
T16 1299-1311 GeneOrGeneProduct denotes glycoprotein
T17 1312-1319 GeneOrGeneProduct denotes hormone
T18 1320-1324 GeneOrGeneProduct denotes beta
T19 1811-1815 GeneOrGeneProduct denotes face

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 71-93 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T2 186-211 DiseaseOrPhenotypicFeature denotes congenital hypothyroidism D003409
T3 455-477 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T4 515-521 DiseaseOrPhenotypicFeature denotes anemia D000740
T5 1580-1594 DiseaseOrPhenotypicFeature denotes TSH deficiency D007037
T6 1760-1782 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T7 1833-1839 DiseaseOrPhenotypicFeature denotes anemia D000740

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 27-35 GeneOrGeneProduct denotes TSH-beta
T2 157-165 GeneOrGeneProduct denotes TSH-beta
T3 395-403 GeneOrGeneProduct denotes TSH-beta
T4 843-859 GeneOrGeneProduct denotes putative product
T5 1299-1311 GeneOrGeneProduct denotes glycoprotein
T6 1320-1333 GeneOrGeneProduct denotes beta subunits

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 71-93 DiseaseOrPhenotypicFeature denotes central hypothyroidism 0016410
T2 186-211 DiseaseOrPhenotypicFeature denotes congenital hypothyroidism 0018612
T3 455-477 DiseaseOrPhenotypicFeature denotes central hypothyroidism 0016410
T4 515-521 DiseaseOrPhenotypicFeature denotes anemia 0002280
T5 1275-1284 DiseaseOrPhenotypicFeature denotes pituitary 0021156
T6 1571-1594 DiseaseOrPhenotypicFeature denotes isolated TSH deficiency 0010139
T7 1665-1685 DiseaseOrPhenotypicFeature denotes pituitary deficiency 0015127
T8 1760-1782 DiseaseOrPhenotypicFeature denotes central hypothyroidism 0016410
T9 1811-1815 DiseaseOrPhenotypicFeature denotes face 0010953
T10 1833-1839 DiseaseOrPhenotypicFeature denotes anemia 0002280

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 71-93 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T2 186-211 DiseaseOrPhenotypicFeature denotes congenital hypothyroidism D003409
T3 455-477 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T4 515-521 DiseaseOrPhenotypicFeature denotes anemia D000740
T5 1580-1594 DiseaseOrPhenotypicFeature denotes TSH deficiency D007037
T6 1656-1685 DiseaseOrPhenotypicFeature denotes isolated pituitary deficiency DISEASE
T7 1760-1782 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T8 1833-1839 DiseaseOrPhenotypicFeature denotes anemia D000740

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 71-93 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T2 186-211 DiseaseOrPhenotypicFeature denotes congenital hypothyroidism D003409
T3 455-477 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T4 515-521 DiseaseOrPhenotypicFeature denotes anemia D000740
T5 1580-1594 DiseaseOrPhenotypicFeature denotes TSH deficiency D007037
T6 1656-1685 DiseaseOrPhenotypicFeature denotes isolated pituitary deficiency DISEASE
T7 1760-1782 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T8 1833-1839 DiseaseOrPhenotypicFeature denotes anemia D000740

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 27-30 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_17842|http://purl.obolibrary.org/obo/CHEBI_137741
T3 119-122 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_17842|http://purl.obolibrary.org/obo/CHEBI_137741
T5 157-160 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_17842|http://purl.obolibrary.org/obo/CHEBI_137741
T7 226-229 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_17842|http://purl.obolibrary.org/obo/CHEBI_137741
T9 395-398 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_17842|http://purl.obolibrary.org/obo/CHEBI_137741
T11 1227-1243 ChemicalEntity denotes cysteine residue http://purl.obolibrary.org/obo/CHEBI_32460
T12 1580-1583 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_17842|http://purl.obolibrary.org/obo/CHEBI_137741

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 430-438 OrganismTaxon denotes patients
T2 532-539 OrganismTaxon denotes Patient
T3 978-985 OrganismTaxon denotes patient
T4 1289-1298 OrganismTaxon denotes placental

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T12 1580-1583 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_137741|http://purl.obolibrary.org/obo/CHEBI_17842
T11 1227-1243 ChemicalEntity denotes cysteine residue http://purl.obolibrary.org/obo/CHEBI_32460
T9 395-398 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_137741|http://purl.obolibrary.org/obo/CHEBI_17842
T7 226-229 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_137741|http://purl.obolibrary.org/obo/CHEBI_17842
T5 157-160 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_137741|http://purl.obolibrary.org/obo/CHEBI_17842
T3 119-122 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_137741|http://purl.obolibrary.org/obo/CHEBI_17842
T1 27-30 ChemicalEntity denotes TSH http://purl.obolibrary.org/obo/CHEBI_137741|http://purl.obolibrary.org/obo/CHEBI_17842
T6 1320-1333 GeneOrGeneProduct denotes beta subunits
T8897 1299-1311 GeneOrGeneProduct denotes glycoprotein
T4 843-859 GeneOrGeneProduct denotes putative product
T5945 395-403 GeneOrGeneProduct denotes TSH-beta
T2 157-165 GeneOrGeneProduct denotes TSH-beta
T89104 27-35 GeneOrGeneProduct denotes TSH-beta
T8 1833-1839 DiseaseOrPhenotypicFeature denotes anemia D000740
T31863 1760-1782 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T95573 1656-1685 DiseaseOrPhenotypicFeature denotes isolated pituitary deficiency DISEASE
T65195 1580-1594 DiseaseOrPhenotypicFeature denotes TSH deficiency D007037
T54252 515-521 DiseaseOrPhenotypicFeature denotes anemia D000740
T62466 455-477 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T3451 186-211 DiseaseOrPhenotypicFeature denotes congenital hypothyroidism D003409
T69120 71-93 DiseaseOrPhenotypicFeature denotes central hypothyroidism D007037
T48940 1289-1298 OrganismTaxon denotes placental
T88293 978-985 OrganismTaxon denotes patient
T87381 532-539 OrganismTaxon denotes Patient
T90879 430-438 OrganismTaxon denotes patients
T12790 1519-1523 SequenceVariant denotes C88Y
T21214 1383-1387 SequenceVariant denotes C88Y
T76614 1209-1213 SequenceVariant denotes C88Y
T33335 1066-1073 SequenceVariant denotes 313delT

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 186-211 HP_0000851 denotes congenital hypothyroidism
T2 197-211 HP_0000821 denotes hypothyroidism

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 71-78 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T2 455-462 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T3 1760-1767 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T4 1811-1815 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 186-211 HP:0000851 denotes congenital hypothyroidism
TI1 71-93 HP:0011787 denotes central hypothyroidism
AB2 455-477 HP:0011787 denotes central hypothyroidism
AB3 515-521 HP:0001903 denotes anemia
AB4 1760-1782 HP:0011787 denotes central hypothyroidism
AB5 1833-1839 HP:0001903 denotes anemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 1571-1594 ORDO:90674 denotes isolated TSH deficiency

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-133 Sentence denotes Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
TextSentencer_T2 134-142 Sentence denotes CONTEXT:
TextSentencer_T3 143-255 Sentence denotes Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening.
TextSentencer_T4 256-266 Sentence denotes OBJECTIVE:
TextSentencer_T5 267-522 Sentence denotes Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital central hypothyroidism and conventional treatment-resistant anemia.
TextSentencer_T6 523-531 Sentence denotes RESULTS:
TextSentencer_T7 532-629 Sentence denotes Patient 1 had a homozygous G to A nucleotide change at the 5' donor splice site of exon/intron 2.
TextSentencer_T8 630-697 Sentence denotes This resulted in a silent change at codon 34 of the mature protein.
TextSentencer_T9 698-838 Sentence denotes In vitro splicing assays showed that the mutant minigene dramatically affected pre-mRNA processing, causing exon 2 to be completely skipped.
TextSentencer_T10 839-974 Sentence denotes The putative product from a new out-of-frame translational start point in exon 3 is expected to yield a nonsense 25-amino-acid peptide.
TextSentencer_T11 975-1221 Sentence denotes In patient 2, sequence analysis revealed a compound heterozygosis for the already reported 313delT (C105Vfs114X) mutation and for a second novel mutation in exon 3, substituting G for A at cDNA nucleotide position 323, resulting in a C88Y change.
TextSentencer_T12 1222-1334 Sentence denotes This cysteine residue is conserved among all dimeric pituitary and placental glycoprotein hormone-beta subunits.
TextSentencer_T13 1335-1431 Sentence denotes Data from in silico analysis confirmed that the C88Y mutation would affect subunit conformation.
TextSentencer_T14 1432-1554 Sentence denotes Indeed, two different bioinformatics approaches, PolyPhen and SIFT analysis, predicted C88Y to be a damaging substitution.
TextSentencer_T15 1555-1567 Sentence denotes CONCLUSIONS:
TextSentencer_T16 1568-1736 Sentence denotes In isolated TSH deficiency, the exact molecular diagnosis is mandatory for diagnosis of isolated pituitary deficiency, delineation of prognosis, and genetic counseling.
TextSentencer_T17 1737-1862 Sentence denotes Moreover, diagnosis of central hypothyroidism should be considered in the face of severe infant anemia of uncertain etiology.
T1 0-133 Sentence denotes Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
T2 134-142 Sentence denotes CONTEXT:
T3 143-255 Sentence denotes Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening.
T4 256-266 Sentence denotes OBJECTIVE:
T5 267-522 Sentence denotes Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital central hypothyroidism and conventional treatment-resistant anemia.
T6 523-531 Sentence denotes RESULTS:
T7 532-629 Sentence denotes Patient 1 had a homozygous G to A nucleotide change at the 5' donor splice site of exon/intron 2.
T8 630-697 Sentence denotes This resulted in a silent change at codon 34 of the mature protein.
T9 698-838 Sentence denotes In vitro splicing assays showed that the mutant minigene dramatically affected pre-mRNA processing, causing exon 2 to be completely skipped.
T10 839-974 Sentence denotes The putative product from a new out-of-frame translational start point in exon 3 is expected to yield a nonsense 25-amino-acid peptide.
T11 975-1221 Sentence denotes In patient 2, sequence analysis revealed a compound heterozygosis for the already reported 313delT (C105Vfs114X) mutation and for a second novel mutation in exon 3, substituting G for A at cDNA nucleotide position 323, resulting in a C88Y change.
T12 1222-1334 Sentence denotes This cysteine residue is conserved among all dimeric pituitary and placental glycoprotein hormone-beta subunits.
T13 1335-1431 Sentence denotes Data from in silico analysis confirmed that the C88Y mutation would affect subunit conformation.
T14 1432-1554 Sentence denotes Indeed, two different bioinformatics approaches, PolyPhen and SIFT analysis, predicted C88Y to be a damaging substitution.
T15 1555-1567 Sentence denotes CONCLUSIONS:
T16 1568-1736 Sentence denotes In isolated TSH deficiency, the exact molecular diagnosis is mandatory for diagnosis of isolated pituitary deficiency, delineation of prognosis, and genetic counseling.
T17 1737-1862 Sentence denotes Moreover, diagnosis of central hypothyroidism should be considered in the face of severe infant anemia of uncertain etiology.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 71-78 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T2 455-462 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T3 1760-1767 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T4 1289-1298 http://purl.obolibrary.org/obo/UBERON_0001987 denotes placental
PD-UBERON-AE-B_T5 1811-1815 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1066-1073 DNAMutation:c|DEL|313|T denotes 313delT
T2 1075-1086 ProteinMutation:p|FS|C|105|V|114 denotes C105Vfs114X
T3 1209-1213 ProteinMutation:p|SUB|C|88|Y denotes C88Y
T4 1383-1387 ProteinMutation:p|SUB|C|88|Y denotes C88Y
T5 1519-1523 ProteinMutation:p|SUB|C|88|Y denotes C88Y