Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion> ?p ?o ?g. }
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- NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion type Assertion NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_head.
- NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion description "[Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance.
- NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion evidence source_evidence_literature NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance.
- NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion SIO_000772 8791519 NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance.
- NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion wasDerivedFrom befree-20150227 NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance.
- NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_assertion wasGeneratedBy ECO_0000203 NP321250.RA4Ek85nmLBp8uSwClKLWvMrqf8jQncf7TmJonewEH1o4130_provenance.