Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_assertion> ?p ?o ?g. }
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- NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_assertion type Assertion NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_head.
- NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_assertion description "[Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_provenance.
- NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_assertion evidence source_evidence_literature NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_provenance.
- NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_assertion SIO_000772 22284826 NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_provenance.
- NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_assertion wasDerivedFrom befree-20140225 NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_provenance.
- NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_assertion wasGeneratedBy ECO_0000203 NP213370.RAzyQi5hfBmkT1K6eUbR5Q_phMAw5dbCwarIlvlEgarQc130_provenance.