PubMed:21684788 / 1054-1212 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T8","span":{"begin":0,"end":158},"obj":"Sentence"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"LitCoin-entities","denotations":[{"id":"8716","span":{"begin":30,"end":37},"obj":"OrganismTaxon"},{"id":"8717","span":{"begin":72,"end":104},"obj":"SequenceVariant"},{"id":"8718","span":{"begin":130,"end":138},"obj":"SequenceVariant"},{"id":"8719","span":{"begin":140,"end":145},"obj":"SequenceVariant"},{"id":"8720","span":{"begin":150,"end":157},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A24","pred":"db_id","subj":"8716","obj":"NCBITaxon:9606"},{"id":"A25","pred":"db_id","subj":"8717","obj":"c|DEL||1.44M"},{"id":"A26","pred":"db_id","subj":"8718","obj":"c|SUB|C|407|T"},{"id":"A27","pred":"db_id","subj":"8719","obj":"p|SUB|P|136|L"},{"id":"A28","pred":"db_id","subj":"8720","obj":"NCBIGene:224"}],"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":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":130,"end":138},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":140,"end":145},"obj":"SequenceVariant"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T31","span":{"begin":4,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T32","span":{"begin":77,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T33","span":{"begin":111,"end":119},"obj":"GeneOrGeneProduct"},{"id":"T34","span":{"begin":120,"end":128},"obj":"GeneOrGeneProduct"},{"id":"T35","span":{"begin":150,"end":157},"obj":"GeneOrGeneProduct"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T17","span":{"begin":4,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":150,"end":157},"obj":"GeneOrGeneProduct"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T6","span":{"begin":150,"end":157},"obj":"GeneOrGeneProduct"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T3","span":{"begin":30,"end":37},"obj":"OrganismTaxon"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T25189","span":{"begin":150,"end":157},"obj":"GeneOrGeneProduct"},{"id":"T83509","span":{"begin":30,"end":37},"obj":"OrganismTaxon"},{"id":"T17772","span":{"begin":140,"end":145},"obj":"SequenceVariant"},{"id":"T83316","span":{"begin":130,"end":138},"obj":"SequenceVariant"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":130,"end":138},"obj":"DNAMutation:c|SUB|C|407|T"},{"id":"T2","span":{"begin":140,"end":145},"obj":"ProteinMutation:p|SUB|P|136|L"}],"text":"The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407C\u003eT, P136L) in ALDH3A2."}