Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_assertion> ?p ?o ?g. }
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- NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_assertion type Assertion NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_head.
- NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_assertion description "[Pachyonychia congenita (PC), a rare autosomal-dominant keratin disorder caused by mutations in keratin genes KRT6A/B, KRT16 or KRT17, is characterized by painful plantar keratoderma and hypertrophic nail dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_provenance.
- NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_assertion evidence source_evidence_literature NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_provenance.
- NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_assertion SIO_000772 19785597 NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_provenance.
- NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_assertion wasDerivedFrom befree-20140225 NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_provenance.
- NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_assertion wasGeneratedBy ECO_0000203 NP386198.RAh4-v0x_CEmDH7hKsIuzSMvqPY1YB-rwBmhMCAszH6v8130_provenance.