Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_assertion description "[In humans, mutations in SERCA1 (ATP2A1) cause Brody disease, an impairment of skeletal muscle relaxation; loss of one copy of the SERCA2 (ATP2A2) gene causes Darier disease, a skin disorder; and loss of one copy of the SPCA1 (ATP2C1) gene causes Hailey-Hailey disease, another skin disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_assertion evidence source_evidence_literature NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_assertion SIO_000772 12763865 NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_assertion wasDerivedFrom befree-20140225 NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_assertion wasGeneratedBy ECO_0000203 NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP170569.RA2V4vw8b2GfcqaDIzJP8aOEL2Q8JIZft4vJPBOEiqNSI130_provenance.