Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_assertion description "[To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with 'classical' OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_assertion evidence source_evidence_literature NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_assertion SIO_000772 18463683 NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_assertion wasDerivedFrom befree-20150227 NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_assertion wasGeneratedBy ECO_0000203 NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP601508.RAAEl9fVbEyLNiroY3e3bWZTuvv8lOlYk48BrDcs61cB4130_provenance.