Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_assertion> ?p ?o ?g. }
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- NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_assertion type Assertion NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_head.
- NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_assertion description "[By using homozygosity mapping in consanguineous families, we identify loss-of-function mutations in CC2D2A in JSRD patients with and without retinal, kidney, and liver disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_provenance.
- NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_assertion evidence source_evidence_literature NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_provenance.
- NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_assertion SIO_000772 18950740 NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_provenance.
- NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_assertion wasDerivedFrom befree-20150227 NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_provenance.
- NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_assertion wasGeneratedBy ECO_0000203 NP931630.RAtISRdBSzYFjMDSL9wr0PStLWIFctVVbr9y8r9nB_EOc130_provenance.