PubMed:19370764 / 453-619
Annnotations
PubTator4TogoVar
{"project":"PubTator4TogoVar","denotations":[{"id":"19370764_0","span":{"begin":25,"end":32},"obj":"ProteinMutation"}],"attributes":[{"id":"19370764_0_ProteinMutation","pred":"proteinmutation","subj":"19370764_0","obj":"rs193302860"}],"text":"These included missense (p.T286M) and nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site (c.610-2A\u003eG)."}
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T4","span":{"begin":0,"end":166},"obj":"Sentence"}],"text":"These included missense (p.T286M) and nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site (c.610-2A\u003eG)."}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"5998","span":{"begin":25,"end":32},"obj":"SequenceVariant"},{"id":"5999","span":{"begin":48,"end":55},"obj":"SequenceVariant"},{"id":"6000","span":{"begin":100,"end":115},"obj":"SequenceVariant"},{"id":"6001","span":{"begin":154,"end":164},"obj":"SequenceVariant"}],"attributes":[{"id":"A11","pred":"db_id","subj":"5998","obj":"DBSNP:rs193302860"},{"id":"A12","pred":"db_id","subj":"5999","obj":"DBSNP:rs137852884"},{"id":"A13","pred":"db_id","subj":"6000","obj":"DBSNP:rs193302855"},{"id":"A14","pred":"db_id","subj":"6001","obj":"DBSNP:rs193302855"}],"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":"These included missense (p.T286M) and nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site (c.610-2A\u003eG)."}
LitCoin-SeqVar
{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":25,"end":32},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":48,"end":55},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":154,"end":164},"obj":"SequenceVariant"}],"text":"These included missense (p.T286M) and nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site (c.610-2A\u003eG)."}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T14","span":{"begin":15,"end":23},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":57,"end":66},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":141,"end":147},"obj":"GeneOrGeneProduct"}],"text":"These included missense (p.T286M) and nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site (c.610-2A\u003eG)."}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T32283","span":{"begin":154,"end":164},"obj":"SequenceVariant"},{"id":"T52346","span":{"begin":48,"end":55},"obj":"SequenceVariant"},{"id":"T47349","span":{"begin":25,"end":32},"obj":"SequenceVariant"}],"text":"These included missense (p.T286M) and nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site (c.610-2A\u003eG)."}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":25,"end":32},"obj":"ProteinMutation:p|SUB|T|286|M"},{"id":"T2","span":{"begin":48,"end":55},"obj":"ProteinMutation:p|SUB|W|111|X"},{"id":"T3","span":{"begin":154,"end":164},"obj":"DNAMutation:c|SUB|A|610-2|G"}],"text":"These included missense (p.T286M) and nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site (c.610-2A\u003eG)."}