Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_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." NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_assertion evidence source_evidence_curated NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_assertion SIO_000772 17224476 NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_assertion wasDerivedFrom uniprot-20150221 NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_assertion wasGeneratedBy ECO_0000218 NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3348.RAJ3VVWkGELaKKhrbIOApIZnS_zdN-tVYWm-aQuqBREkk130_provenance.