PubMed:23956106 / 510-673
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":163},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":163},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene."}
sonoma2
{"project":"sonoma2","denotations":[{"id":"T29","span":{"begin":88,"end":93},"obj":"DISEASE"},{"id":"T30","span":{"begin":88,"end":93},"obj":"GENE"},{"id":"T31","span":{"begin":126,"end":143},"obj":"VAR"},{"id":"T32","span":{"begin":151,"end":157},"obj":"GENE"}],"relations":[{"id":"R17","pred":"ThemeOf","subj":"T32","obj":"T31"}],"text":"In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene."}