Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.R200*
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VSX2

NM_182894.3:p.R200*

Associated Papers

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

Brock DC et al.

Plos Genetics, 2026

Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.

Dawood M et al.

Journal of Human Genetics, 2025

Genetic variants associated with diseases in Afghan population.

Zadran SK et al.

Molecular Genetics & Genomic Medicine, 2021

33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Iseri SU et al.

Human Genetics, 2010

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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."