PubMed:18385794 / 823-933
Annnotations
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T10","span":{"begin":0,"end":110},"obj":"Sentence"}],"text":"Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort."}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"4894","span":{"begin":74,"end":78},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A22","pred":"db_id","subj":"4894","obj":"NCBIGene:6657"}],"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":"Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort."}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T14","span":{"begin":4,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":74,"end":78},"obj":"GeneOrGeneProduct"}],"text":"Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort."}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T23","span":{"begin":4,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":23,"end":32},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":74,"end":78},"obj":"GeneOrGeneProduct"}],"text":"Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort."}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T11","span":{"begin":74,"end":78},"obj":"GeneOrGeneProduct"}],"text":"Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort."}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T11","span":{"begin":74,"end":78},"obj":"GeneOrGeneProduct"}],"text":"Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort."}