Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L80del1
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GPR143

NM_000273.3:p.L80del1

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_s005.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

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

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Jackson D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.

Kim US et al.

International Journal of Ophthalmology, 2016

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Hu J et al.

Molecular Vision, 2011

A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.

Peng Y et al.

Molecular Vision, 2009

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Fang S et al.

Molecular Vision, 2008

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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."