Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_assertion description "[The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_assertion evidence source_evidence_curated NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_assertion SIO_000772 10914677 NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_assertion wasDerivedFrom uniprot-20130724 NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_assertion wasGeneratedBy ECO_0000218 NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP575.RALKXYy45JYhY23KCwi08nNVAAT_UhUh8SpkPBiBtx6oY130_provenance.