PubMed:18945288 / 1196-1344
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/18945288","sourcedb":"PubMed","sourceid":"18945288","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/18945288","text":"We found a single nucleotide deletion c.342delA, located in exon 3, which resulted in a frameshift at amino acid position 58 (p.Arg58fs or p.R58fs).","tracks":[{"project":"LitCoin-sentences","denotations":[{"id":"T12","span":{"begin":0,"end":148},"obj":"Sentence"}],"attributes":[{"subj":"T12","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin-entities","denotations":[{"id":"5532","span":{"begin":38,"end":47},"obj":"SequenceVariant"},{"id":"5533","span":{"begin":126,"end":135},"obj":"SequenceVariant"},{"id":"5534","span":{"begin":139,"end":146},"obj":"SequenceVariant"}],"attributes":[{"id":"A10","pred":"db_id","subj":"5532","obj":"c|DEL|342|A"},{"id":"A11","pred":"db_id","subj":"5533","obj":"p|FS|R|58||"},{"id":"A12","pred":"db_id","subj":"5534","obj":"p|FS|R|58||"},{"subj":"5532","pred":"source","obj":"LitCoin-entities"},{"subj":"5533","pred":"source","obj":"LitCoin-entities"},{"subj":"5534","pred":"source","obj":"LitCoin-entities"}],"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/"}]},{"project":"LitCoin-SeqVar","denotations":[{"id":"T2","span":{"begin":38,"end":47},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":126,"end":135},"obj":"SequenceVariant"},{"id":"T4","span":{"begin":139,"end":146},"obj":"SequenceVariant"}],"attributes":[{"subj":"T2","pred":"source","obj":"LitCoin-SeqVar"},{"subj":"T3","pred":"source","obj":"LitCoin-SeqVar"},{"subj":"T4","pred":"source","obj":"LitCoin-SeqVar"}]},{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T9","span":{"begin":102,"end":112},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T9","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T25","span":{"begin":83,"end":87},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":102,"end":112},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T25","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T26","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"project":"LitCoin-training-merged","denotations":[{"id":"T8153","span":{"begin":139,"end":146},"obj":"SequenceVariant"},{"id":"T60974","span":{"begin":126,"end":135},"obj":"SequenceVariant"},{"id":"T51009","span":{"begin":38,"end":47},"obj":"SequenceVariant"}],"attributes":[{"subj":"T8153","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T60974","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T51009","pred":"source","obj":"LitCoin-training-merged"}]},{"project":"tmVarCorpus","denotations":[{"id":"T2","span":{"begin":38,"end":47},"obj":"DNAMutation:c|DEL|342|A"},{"id":"T3","span":{"begin":126,"end":135},"obj":"ProteinMutation:p|FS|R|58||"},{"id":"T4","span":{"begin":139,"end":146},"obj":"ProteinMutation:p|FS|R|58||"}],"attributes":[{"subj":"T2","pred":"source","obj":"tmVarCorpus"},{"subj":"T3","pred":"source","obj":"tmVarCorpus"},{"subj":"T4","pred":"source","obj":"tmVarCorpus"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCoin-sentences","color":"#93aaec","default":true},{"id":"LitCoin-entities","color":"#c4ec93"},{"id":"LitCoin-SeqVar","color":"#ec93de"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#93ece0"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#ecc693"},{"id":"LitCoin-training-merged","color":"#ac93ec"},{"id":"tmVarCorpus","color":"#94ec93"}]}]}}