Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_assertion> ?p ?o ?g. }
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- NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_assertion type Assertion NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_head.
- NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_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." NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_provenance.
- NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_assertion evidence source_evidence_literature NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_provenance.
- NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_assertion SIO_000772 14583444 NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_provenance.
- NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_assertion wasDerivedFrom befree-2016 NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_provenance.
- NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_assertion wasGeneratedBy ECO_0000203 NP418527.RAqpuXTtVnFFqcKrkmXrHh6d7Ug2rXyofLTPfjkKXnt_s130_provenance.