Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_assertion description "[A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_assertion evidence source_evidence_curated NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_assertion SIO_000772 11214007 NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_assertion wasDerivedFrom uniprot-2016 NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_assertion wasGeneratedBy ECO_0000218 NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1283.RA5q3Yuc8xOFUx1UD1MVZutFEez8OmTrE9Lrdq16z_xtM130_provenance.