PubMed:7657610 / 177-352
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":175},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":175},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A previous study has identified a C--\u003eU mutation at position -3 in the 3' splice site of intron 10 of the phenylalanine hydroxylase pre-mRNA in a patient with phenylketonuria."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":106,"end":131},"obj":"gene:5053"},{"id":"T1","span":{"begin":159,"end":174},"obj":"disease:C0031485"},{"id":"T2","span":{"begin":106,"end":131},"obj":"gene:5053"},{"id":"T3","span":{"begin":159,"end":174},"obj":"disease:C0751434"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A previous study has identified a C--\u003eU mutation at position -3 in the 3' splice site of intron 10 of the phenylalanine hydroxylase pre-mRNA in a patient with phenylketonuria."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":159,"end":174},"obj":"ORDO:716"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A previous study has identified a C--\u003eU mutation at position -3 in the 3' splice site of intron 10 of the phenylalanine hydroxylase pre-mRNA in a patient with phenylketonuria."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":159,"end":174},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0009861"}],"text":"A previous study has identified a C--\u003eU mutation at position -3 in the 3' splice site of intron 10 of the phenylalanine hydroxylase pre-mRNA in a patient with phenylketonuria."}
NCBITAXON
{"project":"NCBITAXON","denotations":[{"id":"T2","span":{"begin":146,"end":153},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"}],"text":"A previous study has identified a C--\u003eU mutation at position -3 in the 3' splice site of intron 10 of the phenylalanine hydroxylase pre-mRNA in a patient with phenylketonuria."}