Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_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." NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_assertion evidence source_evidence_curated NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_assertion SIO_000772 10914677 NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_assertion wasDerivedFrom uniprot-2016 NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_assertion wasGeneratedBy ECO_0000218 NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP923.RA6fhsL1nsgFNhNewxISZ6jQBJLy2tpa0e06HjxGu4az0130_provenance.