Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L168_C169delFs
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GPR143

NM_000273.3:p.L168_C169delFs

Associated Papers

Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.

Chen S et al.

Investigative Ophthalmology & Visual Science, 2025

41025874 (PubMed )
Supplement: iovs-66-12-69_s006.xlsx › Sheet1

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L et al.

Genetic Testing and Molecular Biomarkers, 2009

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Mayeur H et al.

Bmc Medical Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."