Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.R227W
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VSX2

NM_182894.3:p.R227W

Associated Papers

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

Brock DC et al.

Plos Genetics, 2026

Microphthalmia and disrupted retinal development due to a LacZ knock-in/knock-out allele at the Vsx2 locus.

Napoli FR et al.

Biorxiv : the Preprint Server for Biology, 2024

Microphthalmia and Disrupted Retinal Development Due to a LacZ Knock-in/Knock-Out Allele at the Vsx2 Locus.

Napoli FR et al.

Eye and Brain, 2024

A framework to identify functional interactors that contribute to disrupted early retinal development in Vsx2 ocular retardation J mice.

Leung AM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.

Mayer AK et al.

European Journal of Human Genetics : Ejhg, 2020

Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.

Khan AO et al.

Ophthalmic Genetics, 2015

Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding.

Zou C et al.

Plos Genetics, 2012

VSX2 mutations in autosomal recessive microphthalmia.

Reis LM et al.

Molecular Vision, 2011

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

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M et al.

Clinical Genetics, 2007

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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."