Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion> ?p ?o ?g. }
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- NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion type Assertion NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_head.
- NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_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." NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance.
- NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion evidence source_evidence_literature NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance.
- NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion SIO_000772 18463683 NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance.
- NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion wasDerivedFrom gad-20150221 NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance.
- NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion wasGeneratedBy ECO_0000203 NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance.