Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion> ?p ?o ?g. }
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- NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion type Assertion NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_head.
- 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.