Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_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." NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_assertion evidence source_evidence_literature NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_assertion SIO_000772 8791519 NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_assertion wasDerivedFrom befree-20140225 NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_assertion wasGeneratedBy ECO_0000203 NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP767508.RAkLjsn2UVdGiIBj-KJJhLB1ZDd6QtmxcWPRyBrMO9_Lk130_provenance.