Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_assertion wasGeneratedBy ECO_0000218 NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_assertion wasDerivedFrom ctd_human-2016 NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_assertion SIO_000772 12730697 NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_assertion evidence source_evidence_curated NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.
- NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_assertion description "[Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP12900.RARL8yo-eWhfLVsYXFvQqL16T4OpEhiRXjnlydlziSSIU130_provenance.