Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_assertion description "[Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_assertion evidence source_evidence_curated NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_assertion SIO_000772 20037588 NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_assertion wasDerivedFrom uniprot-2016 NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_assertion wasGeneratedBy ECO_0000218 NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6054.RA5WHk6Xi_njBzfD-C9jEvRzwhU-U7AgUQRXljikUovMc130_provenance.