Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.L17V
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VSX1

NM_014588.6:p.L17V

Associated Papers

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

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

Zhang J et al.

Frontiers in Genetics, 2023

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable8._Rec_PseudoCtCADD20

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

Litke AM et al.

Investigative Ophthalmology & Visual Science, 2018

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

VSX1 gene and keratoconus: genetic analysis in Korean patients.

Jeoung JW et al.

Cornea, 2012

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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."