Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_assertion wasGeneratedBy ECO_0000218 NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_assertion wasDerivedFrom uniprot-20130724 NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_assertion SIO_000772 7682883 NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_assertion evidence source_evidence_curated NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_assertion description "[A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.