Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_assertion wasGeneratedBy ECO_0000218 NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_assertion wasDerivedFrom uniprot-20150221 NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_assertion SIO_000772 16525032 NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_assertion evidence source_evidence_curated NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.
- NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_assertion description "[A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3117.RADgwtf-iybD24-q0151IJNRhMccH2l3l8VRSBjx6m7Ls130_provenance.