Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_assertion> ?p ?o ?g. }
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- NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_assertion type Assertion NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_head.
- NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_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." NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_provenance.
- NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_assertion evidence source_evidence_literature NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_provenance.
- NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_assertion SIO_000772 22284826 NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_provenance.
- NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_assertion wasDerivedFrom befree-20150227 NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_provenance.
- NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_assertion wasGeneratedBy ECO_0000203 NP920809.RAq1zgVrmX0Di4N3r20I49TPcielQCvWAiPoLFNl6SJRs130_provenance.