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- source_evidence_literature type ECO_0000212 NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_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." NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_assertion evidence source_evidence_literature NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_assertion SIO_000772 18463683 NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_assertion wasDerivedFrom gad-20150221 NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_assertion wasGeneratedBy ECO_0000203 NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.
- gad-20150221 importedOn "2015-02-21" NP122851.RAfgTa-2QHaIeRWu5Cy8aOOxDe5zr_VEyK5GzjjiPfc3M130_provenance.