Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.W292*
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GPR143

NM_000273.3:p.W292*

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

Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants.

Huang L et al.

Indian Journal of Ophthalmology, 2024

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

Oetting WS

Human Mutation, 2002

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT et al.

Human Genetics, 2001

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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."