Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.A120_M121Splc
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GPR143

NM_000273.3:p.A120_M121Splc

Associated Papers

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

GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.

Xu J et al.

Molecular Vision, 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

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Han R et al.

Scientific Reports, 2015

Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.

Li N et al.

Molecular Vision, 2011

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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."