Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP443490.RAnMDAyJdauHaKGXtpy6U2Qlp50FFb2HVf02KL7y2J0EY#assertion> ?p ?o ?g. }
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- assertion description "[We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30.3), as causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 14583444 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.