Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.P247R
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VSX1

NM_014588.6:p.P247R

Associated Papers

Genetics of Keratoconus: A Comprehensive Review.

Barcelo-Canton RH et al.

Genes, 2025

Targeted next-generation sequencing analysis in Italian patients with keratoconus.

Lombardo M et al.

Eye (london, England), 2024

Clinical and genetic analysis VSX1 variants among families with keratoconus in northwest China.

Zhang J et al.

Frontiers in Genetics, 2023

A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India.

Chakravarty M et al.

European Journal of Ophthalmology, 2022

Genetic and Environmental Risk Factors for Keratoconus.

Lucas SEM et al.

Annual Review of Vision Science, 2020

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.

Markitantova Y et al.

International Journal of Molecular Sciences, 2020

[Search for genetic markers for precise diagnostics of keratoconus].

Skorodumova LO et al.

Biomeditsinskaia Khimiia, 2019

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

Litke AM et al.

Investigative Ophthalmology & Visual Science, 2018

Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.

Loukovitis E et al.

Ophthalmology and Therapy, 2018

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Lucas SEM et al.

Plos One, 2018

29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1

Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.

Bardak H et al.

Genetics and Molecular Research : Gmr, 2016

Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.

Shetty R et al.

Bmc Medical Genetics, 2015

Genetics of keratoconus: where do we stand?

Abu-Amero KK et al.

Journal of Ophthalmology, 2014

Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.

Verma A et al.

Bmc Research Notes, 2013

Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.

Dehkordi FA et al.

Acta Cytologica, 2013

VSX1 gene and keratoconus: genetic analysis in Korean patients.

Jeoung JW et al.

Cornea, 2012

The Genetics of Keratoconus: A Review.

Wheeler J et al.

Reproductive System & Sexual Disorders : Current Research, 2012

Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.

Abu-Amero KK et al.

Molecular Vision, 2011

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

De Bonis P et al.

Molecular Vision, 2011

Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus.

Saee-Rad S et al.

Molecular Vision, 2011

VSX1 gene analysis in keratoconus.

Tanwar M et al.

Molecular Vision, 2010

Mutational screening of VSX1 in keratoconus patients from the European population.

Dash DP et al.

Eye (london, England), 2010

Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.

Tang YG et al.

Cornea, 2008

VSX1 gene variants are associated with keratoconus in unrelated Korean patients.

Mok JW et al.

Journal of Human Genetics, 2008

Molecular analysis of the VSX1 gene in familial keratoconus.

Liskova P et al.

Molecular Vision, 2007

Genetics of corneal dystrophies: the evolving landscape.

Pieramici SF et al.

Current Opinion in Ophthalmology, 2006

No VSX1 gene mutations associated with keratoconus.

Aldave AJ et al.

Investigative Ophthalmology & Visual Science, 2006

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Bisceglia L et al.

Investigative Ophthalmology & Visual Science, 2005

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

VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

Héon E et al.

Human Molecular Genetics, 2002

Congenital corneal opacities: a review with a focus on genetics.

Ciralsky J et al.

Seminars in Ophthalmology, 0

Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.

da Silva DC et al.

Journal of Ophthalmic & Vision Research, 0

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