Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.R131S
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VSX1

NM_014588.6:p.R131S

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

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

Litke AM et al.

Investigative Ophthalmology & Visual Science, 2018

Genetics of keratoconus: where do we stand?

Abu-Amero KK et al.

Journal of Ophthalmology, 2014

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

No VSX1 gene mutations associated with keratoconus.

Aldave AJ et al.

Investigative Ophthalmology & Visual Science, 2006

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.

Mintz-Hittner HA et al.

Ophthalmology, 2004

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."