Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.L212fs
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GPR143

NM_000273.3:p.L212fs

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

Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.

Chen C et al.

Investigative Ophthalmology & Visual Science, 2024

38315492 (PubMed )
Supplement: iovs-65-2-9_s007.pdf

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

Xu J et al.

Molecular Vision, 2023

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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."