Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_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." NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_assertion evidence source_evidence_literature NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_assertion SIO_000772 20170900 NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_assertion wasDerivedFrom befree-20150227 NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_assertion wasGeneratedBy ECO_0000203 NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.