Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_assertion type Assertion NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_head.
- NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_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." NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_provenance.
- NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_assertion evidence source_evidence_literature NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_provenance.
- NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_assertion SIO_000772 18463683 NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_provenance.
- NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_assertion wasDerivedFrom gad-20130706 NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_provenance.
- NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_assertion wasGeneratedBy ECO_0000203 NP73306.RA9uXyEdsGbeRTR716-PhRwLouWcN2Qa6yQ6WP8exEvms130_provenance.