Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion> ?p ?o ?g. }
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- NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion type Assertion NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_head.
- 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.