Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion evidence source_evidence_literature NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion SIO_000772 20170900 NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion wasDerivedFrom befree-20140225 NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion wasGeneratedBy ECO_0000203 NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.