PubMed:10029606 / 601-731
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T5","span":{"begin":0,"end":130},"obj":"Sentence"},{"id":"T5","span":{"begin":0,"end":130},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather."}
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10029606-4#13#18#geners137852310","span":{"begin":13,"end":18},"obj":"geners137852310"},{"id":"10029606-4#53#57#diseaseC0221018","span":{"begin":53,"end":57},"obj":"diseaseC0221018"}],"relations":[{"id":"13#18#geners13785231053#57#diseaseC0221018","pred":"associated_with","subj":"10029606-4#13#18#geners137852310","obj":"10029606-4#53#57#diseaseC0221018"}],"text":"The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB3","span":{"begin":53,"end":57},"obj":"ORDO:75563"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather."}