Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- befree-2016 importedOn "2016-02-19" NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_assertion wasGeneratedBy ECO_0000203 NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_assertion wasDerivedFrom befree-2016 NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_assertion SIO_000772 21944047 NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_assertion evidence source_evidence_literature NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.
- NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_assertion description "[Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP926080.RAk3kiCPGFvg7obXKu3-15bsvEfbjuIjFceEgbMI0p2CU130_provenance.