PubMed:20143913 / 671-979 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T5","span":{"begin":0,"end":308},"obj":"Sentence"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"LitCoin-entities","denotations":[{"id":"7110","span":{"begin":71,"end":88},"obj":"SequenceVariant"}],"attributes":[{"id":"A13","pred":"db_id","subj":"7110","obj":"g|DEL|99367_102002|"}],"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":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T3","span":{"begin":71,"end":88},"obj":"SequenceVariant"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T21","span":{"begin":17,"end":25},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":125,"end":131},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":137,"end":150},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":155,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":172,"end":177},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":200,"end":208},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":212,"end":222},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":246,"end":253},"obj":"GeneOrGeneProduct"},{"id":"T29","span":{"begin":263,"end":274},"obj":"GeneOrGeneProduct"},{"id":"T30","span":{"begin":301,"end":307},"obj":"GeneOrGeneProduct"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T10","span":{"begin":212,"end":222},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":246,"end":253},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":263,"end":274},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":301,"end":307},"obj":"GeneOrGeneProduct"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T6","span":{"begin":244,"end":253},"obj":"GeneOrGeneProduct"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T6","span":{"begin":244,"end":253},"obj":"GeneOrGeneProduct"},{"id":"T98771","span":{"begin":71,"end":88},"obj":"SequenceVariant"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T5","span":{"begin":0,"end":308},"obj":"Sentence"},{"id":"T5","span":{"begin":0,"end":308},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}

{"project":"tmVarCorpus","denotations":[{"id":"T3","span":{"begin":71,"end":88},"obj":"DNAMutation:g|DEL|99367_102002|"}],"text":"This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme."}