Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_assertion wasGeneratedBy ECO_0000218 NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_assertion wasDerivedFrom uniprot-2016 NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_assertion SIO_000772 8447316 NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_assertion evidence source_evidence_curated NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.
- NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_assertion description "[Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8906.RACo6RXNq5PEWVN0K_VC5DMbY0YIiAW3YKg31_QW1-gxY130_provenance.