Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_assertion> ?p ?o ?g. }
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- NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_assertion type Assertion NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_head.
- NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_assertion description "[We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lef�vre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_provenance.
- NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_assertion evidence source_evidence_literature NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_provenance.
- NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_assertion SIO_000772 14974080 NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_provenance.
- NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_assertion wasDerivedFrom befree-20140225 NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_provenance.
- NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_assertion wasGeneratedBy ECO_0000203 NP725452.RAv1x7kLY5Jxhr8p2bXEglfKa3NtqnpIV48FhBf_hQX10130_provenance.