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PubMed:23317772 JSONTXT 9 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
T1 0-89 Sentence denotes Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
TextSentencer_T2 90-100 Sentence denotes OBJECTIVE:
T2 90-100 Sentence denotes OBJECTIVE:
TextSentencer_T3 101-290 Sentence denotes Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A.
T3 101-290 Sentence denotes Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A.
TextSentencer_T4 291-410 Sentence denotes This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.
T4 291-410 Sentence denotes This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.
TextSentencer_T5 411-418 Sentence denotes DESIGN:
T5 411-418 Sentence denotes DESIGN:
TextSentencer_T6 419-500 Sentence denotes Exome sequencing was performed in two of affected members of the Pakistan family.
T6 419-500 Sentence denotes Exome sequencing was performed in two of affected members of the Pakistan family.
TextSentencer_T7 501-509 Sentence denotes RESULTS:
T7 501-509 Sentence denotes RESULTS:
TextSentencer_T8 510-661 Sentence denotes The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T>A (p.C227X).
T8 510-661 Sentence denotes The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T>A (p.C227X).
TextSentencer_T9 662-674 Sentence denotes CONCLUSIONS:
T9 662-674 Sentence denotes CONCLUSIONS:
TextSentencer_T10 675-836 Sentence denotes This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.
T10 675-836 Sentence denotes This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.