Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.L17P
Back to variants list

VSX1

NM_014588.6:p.L17P

Associated Papers

Genetics of Keratoconus: A Comprehensive Review.

Barcelo-Canton RH et al.

Genes, 2025

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

Zhang J et al.

Frontiers in Genetics, 2023

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

[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

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

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

Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.

Stabuc-Silih M et al.

Cornea, 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

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 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.

Nejabat M et al.

Journal of Ophthalmic & Vision Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."