Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_assertion description "[Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_assertion evidence source_evidence_curated NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_assertion SIO_000772 17224476 NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_assertion wasDerivedFrom uniprot-2016 NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_assertion wasGeneratedBy ECO_0000218 NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4831.RA80E3l_MKBSA7SVfhQTOnLDkjeMISPFw_QuZ7rHaI_jg130_provenance.