Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_assertion description "[Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_assertion evidence source_evidence_curated NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_assertion SIO_000772 10439971 NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_assertion wasDerivedFrom uniprot-2016 NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_assertion wasGeneratedBy ECO_0000218 NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP311.RAVIsDSo1BOGdgkhbjA169ybuOZ3cvLLmzi0DLypH2cd0130_provenance.