Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_assertion description "[p63 mutations in SHFM included three novel mutations: a missense mutation (K193E), a nonsense mutation (Q634X), and a mutation in the 3' splice site for exon 5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_assertion evidence source_evidence_curated NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_assertion SIO_000772 11462173 NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_assertion wasDerivedFrom ctd_human-20130708 NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_assertion wasGeneratedBy ECO_0000218 NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP32686.RAGr-Po3Hkt6Uv8_JBV_bHyLNMgYEgHrisIzvcXf3rHcQ130_provenance.