Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion type Assertion NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_head.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_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." NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion evidence source_evidence_literature NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion SIO_000772 22284826 NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion wasDerivedFrom befree-20150227 NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.
- NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_assertion wasGeneratedBy ECO_0000203 NP920821.RArYYp9j3sM4Zm214b8BQs-nD8Zpu2U-h5MwhujSU2vb8130_provenance.