PubMed:15191352 / 577-733 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T6","span":{"begin":0,"end":156},"obj":"Sentence"}],"text":"The single nucleotide substitution I280S (1123T--\u003eG) was present either on both alleles or in a hemizygous form with complete deletion of the second allele."}

{"project":"LitCoin-entities","denotations":[{"id":"847","span":{"begin":35,"end":40},"obj":"SequenceVariant"},{"id":"848","span":{"begin":42,"end":51},"obj":"SequenceVariant"}],"attributes":[{"id":"A15","pred":"db_id","subj":"847","obj":"p|SUB|I|280|S"},{"id":"A16","pred":"db_id","subj":"848","obj":"g|SUB|T|1123|G"}],"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 single nucleotide substitution I280S (1123T--\u003eG) was present either on both alleles or in a hemizygous form with complete deletion of the second allele."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T9","span":{"begin":117,"end":125},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0700063"}],"text":"The single nucleotide substitution I280S (1123T--\u003eG) was present either on both alleles or in a hemizygous form with complete deletion of the second allele."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":35,"end":40},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":42,"end":47},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":126,"end":141},"obj":"SequenceVariant"}],"text":"The single nucleotide substitution I280S (1123T--\u003eG) was present either on both alleles or in a hemizygous form with complete deletion of the second allele."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T15","span":{"begin":91,"end":95},"obj":"GeneOrGeneProduct"}],"text":"The single nucleotide substitution I280S (1123T--\u003eG) was present either on both alleles or in a hemizygous form with complete deletion of the second allele."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T92991","span":{"begin":126,"end":141},"obj":"SequenceVariant"},{"id":"T60786","span":{"begin":42,"end":47},"obj":"SequenceVariant"},{"id":"T17717","span":{"begin":35,"end":40},"obj":"SequenceVariant"}],"text":"The single nucleotide substitution I280S (1123T--\u003eG) was present either on both alleles or in a hemizygous form with complete deletion of the second allele."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":35,"end":40},"obj":"ProteinMutation:p|SUB|I|280|S"},{"id":"T2","span":{"begin":42,"end":51},"obj":"DNAMutation:g|SUB|T|1123|G"}],"text":"The single nucleotide substitution I280S (1123T--\u003eG) was present either on both alleles or in a hemizygous form with complete deletion of the second allele."}