PubMed:19929939 / 887-1135
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T12","span":{"begin":0,"end":248},"obj":"Sentence"},{"id":"T12","span":{"begin":0,"end":248},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A novel heterozygous mutation in exon 18 of the CYLD gene (c.2449delT) was identified, with a deletion of one nucleotide resulting in a premature translational termination codon at amino acid position 831 on the affected allele (p.Cys817Valfs X15)."}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":59,"end":69},"obj":"DNAMutation:c|DEL|2449|T"},{"id":"T2","span":{"begin":229,"end":246},"obj":"ProteinMutation:p|FS|C|817|V|15"}],"text":"A novel heterozygous mutation in exon 18 of the CYLD gene (c.2449delT) was identified, with a deletion of one nucleotide resulting in a premature translational termination codon at amino acid position 831 on the affected allele (p.Cys817Valfs X15)."}