Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_assertion> ?p ?o ?g. }
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- NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_assertion type Assertion NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_head.
- NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_assertion description "[Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_provenance.
- NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_assertion evidence source_evidence_literature NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_provenance.
- NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_assertion SIO_000772 24566826 NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_provenance.
- NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_assertion wasDerivedFrom befree-2016 NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_provenance.
- NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_assertion wasGeneratedBy ECO_0000203 NP1157831.RA5qskYDy6peqHOJ1A0-NTdZq0BQW5GD3geXr56D-CIGA130_provenance.