Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_assertion description "[Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_assertion evidence source_evidence_curated NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_assertion SIO_000772 20206331 NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_assertion wasDerivedFrom uniprot-2016 NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_assertion wasGeneratedBy ECO_0000218 NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6137.RAFDitilIExvBTGMy5QiHL5VPHKCc_2n7yjkNZs0iEbho130_provenance.