Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_assertion description "[A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_assertion evidence source_evidence_curated NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_assertion SIO_000772 16380904 NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_assertion wasDerivedFrom uniprot-20150221 NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_assertion wasGeneratedBy ECO_0000218 NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP247.RAvfjbmNvd71ioGaVerxq1RcDndAin3lwPLsATdtza8Jw130_provenance.