Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_assertion> ?p ?o ?g. }
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- NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_assertion type Assertion NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_head.
- NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_assertion wasGeneratedBy ECO_0000203 NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_provenance.
- NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_assertion wasDerivedFrom befree-2016 NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_provenance.
- NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_assertion SIO_000772 10597140 NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_provenance.
- NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_assertion evidence source_evidence_literature NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_provenance.
- NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_assertion description "[Epidermolytic hyperkeratosis (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic hyperkeratosis and palmoplantar keratoderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP269786.RAqHwL90t2K4qdZ2y938c7xS0phfEJsxWPRa47efzKh2g130_provenance.