Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_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." NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_assertion evidence source_evidence_literature NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_assertion SIO_000772 18463683 NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_assertion wasDerivedFrom befree-20140225 NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_assertion wasGeneratedBy ECO_0000203 NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.
- befree-20140225 importedOn "2014-02-25" NP700399.RA6HJJsisWBqghIKIPvVw6OQXa8dFGAfd9tZaDmM_bUug130_provenance.