Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_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." NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion evidence source_evidence_literature NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion SIO_000772 8791519 NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion wasDerivedFrom befree-20140225 NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_assertion wasGeneratedBy ECO_0000203 NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.
- befree-20140225 importedOn "2014-02-25" NP515125.RAB5FrYtoZxXgTNPLgbpsRlsC2v2OwMxN36hG7gsXMC9c130_provenance.