Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.D105E
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VSX1

NM_014588.6:p.D105E

Associated Papers

Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus.

Lopes AG et al.

Ophthalmic Genetics, 2022

Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis.

Giacomozzi C et al.

Hormone Research in Paediatrics, 2019

Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.

Litke AM et al.

Investigative Ophthalmology & Visual Science, 2018

The Genetics of Keratoconus: A Review.

Wheeler J et al.

Reproductive System & Sexual Disorders : Current Research, 2012

Molecular analysis of the VSX1 gene in familial keratoconus.

Liskova P et al.

Molecular Vision, 2007

Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.

da Silva DC et al.

Journal of Ophthalmic & Vision Research, 0

Screening for Novel LOX and SOD1 Variants in Keratoconus Patients from Brazil.

Gadelha DNB et al.

Journal of Ophthalmic & Vision Research, 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."