Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A165D
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GPR143

NM_000273.3:p.A165D

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

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.

Zi F et al.

Bmc Medical Genomics, 2023

Ocular findings and genomics of X-linked recessive disorders: A review.

Hassan A et al.

Indian Journal of Ophthalmology, 2022

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.

Wang XF et al.

Frontiers in Cell and Developmental Biology, 2021

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.

Pan Q et al.

Acta Ophthalmologica, 2016

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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."