Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1373839.RA8vLNmGRe7t9CsHs1IkkqEyG56XHa9d_OmcV5-nyCrac#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- BEFREE importedOn "2017-02-19" provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 20507343 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.