Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.D124Splc
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VSX2

NM_182894.3:p.D124Splc

Associated Papers

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

Brock DC et al.

Plos Genetics, 2026

41632798 (PubMed )
Supplement: pgen.1012027.s016.xlsx › S11_Table_-_pathogenic_variants

Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Akler G et al.

Molecular Genetics & Genomic Medicine, 2020

31880409 (PubMed )
Supplement: MGG3-8-e1053-s001.xlsx › Sheet1

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

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

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.

Ammar THA et al.

Ophthalmic Genetics, 0

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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."