Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_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." NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_assertion evidence source_evidence_literature NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_assertion SIO_000772 20170900 NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_assertion wasDerivedFrom befree-20140225 NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_assertion wasGeneratedBy ECO_0000203 NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.