PubMed:15064320 / 781-1013
Annnotations
PubTator4TogoVar
{"project":"PubTator4TogoVar","denotations":[{"id":"15064320_0","span":{"begin":190,"end":223},"obj":"ProteinMutation"},{"id":"15064320_1","span":{"begin":225,"end":230},"obj":"ProteinMutation"}],"attributes":[{"id":"15064320_0_ProteinMutation","pred":"proteinmutation","subj":"15064320_0","obj":"rs9332964"},{"id":"15064320_1_ProteinMutation","pred":"proteinmutation","subj":"15064320_1","obj":"rs9332964"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"640","span":{"begin":5,"end":79},"obj":"SequenceVariant"},{"id":"641","span":{"begin":148,"end":178},"obj":"SequenceVariant"},{"id":"642","span":{"begin":190,"end":223},"obj":"SequenceVariant"},{"id":"643","span":{"begin":225,"end":230},"obj":"SequenceVariant"}],"attributes":[{"id":"A21","pred":"db_id","subj":"640","obj":"c|DEL|CODON219|T"},{"id":"A22","pred":"db_id","subj":"641","obj":"DBSNP:rs9332964"},{"id":"A23","pred":"db_id","subj":"642","obj":"DBSNP:rs9332964"},{"id":"A24","pred":"db_id","subj":"643","obj":"DBSNP:rs9332964"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T7","span":{"begin":0,"end":232},"obj":"Sentence"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-entities-OrganismTaxon-PD
{"project":"LitCoin-entities-OrganismTaxon-PD","denotations":[{"id":"T2","span":{"begin":70,"end":75},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":111,"end":116},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"NCBItxid:79338"},{"id":"A3","pred":"db_id","subj":"T3","obj":"NCBItxid:79338"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-SeqVar
{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":225,"end":230},"obj":"SequenceVariant"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T23","span":{"begin":34,"end":42},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":56,"end":64},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":81,"end":86},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":90,"end":98},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":99,"end":107},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":179,"end":187},"obj":"GeneOrGeneProduct"},{"id":"T29","span":{"begin":190,"end":199},"obj":"GeneOrGeneProduct"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T13","span":{"begin":190,"end":199},"obj":"GeneOrGeneProduct"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T2","span":{"begin":174,"end":177},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0011921"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-Chemical-MeSH-CHEBI
{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T8","span":{"begin":148,"end":155},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":165,"end":172},"obj":"ChemicalEntity"},{"id":"T12","span":{"begin":174,"end":177},"obj":"ChemicalEntity"},{"id":"T13","span":{"begin":190,"end":199},"obj":"ChemicalEntity"},{"id":"T14","span":{"begin":215,"end":223},"obj":"ChemicalEntity"}],"attributes":[{"id":"A8","pred":"ID:","subj":"T8","obj":"D006147"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D000225"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_16708"},{"id":"A12","pred":"ID:","subj":"T12","obj":"http://purl.obolibrary.org/obo/CHEBI_27869"},{"id":"A13","pred":"ID:","subj":"T13","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A14","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A15","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A16","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T14","span":{"begin":215,"end":223},"obj":"ChemicalEntity"},{"id":"T13","span":{"begin":190,"end":199},"obj":"ChemicalEntity"},{"id":"T12","span":{"begin":174,"end":177},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":165,"end":172},"obj":"ChemicalEntity"},{"id":"T8","span":{"begin":148,"end":155},"obj":"ChemicalEntity"},{"id":"T9443","span":{"begin":225,"end":230},"obj":"SequenceVariant"}],"attributes":[{"id":"A16","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A15","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A14","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A13","pred":"ID:","subj":"T13","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A12","pred":"ID:","subj":"T12","obj":"http://purl.obolibrary.org/obo/CHEBI_27869"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_16708"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D000225"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D006147"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":225,"end":230},"obj":"ProteinMutation:p|SUB|R|227|Q"}],"text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q)."}