Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_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." NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion evidence source_evidence_curated NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion SIO_000772 16380904 NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion wasDerivedFrom uniprot-20130724 NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion wasGeneratedBy ECO_0000218 NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.