Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.W292C
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GPR143

NM_000273.3:p.W292C

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-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.

Aneja A et al.

Genes, 2025

40869959 (PubMed )
Supplement: genes-16-00911-s001.zip › genes-3754796-supplementary.xlsx › Sheet2

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.

Oetting WS

Human Mutation, 2002

Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.

Hegde M et al.

Genetic Testing, 2002

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

d'Addio M et al.

Human Molecular Genetics, 2000

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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."