Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.R869H
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SLC4A11

NM_032034.4:p.R869H

Associated Papers

SLC4A11 Revisited: Isoforms, Expression, Functions, and Unresolved Questions.

Kovaleva PA et al.

Biomolecules, 2025

40563515 (PubMed )
Supplement: biomolecules-15-00875-s001.zip › biomolecules-3667328-supplementary.xlsx › SLC4A11_cases

Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

Zhang J et al.

Frontiers in Genetics, 2019

Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.

Cunnusamy K et al.

Cornea, 2016

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Riazuddin SA et al.

Human Mutation, 2010

Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.

Sultana A et al.

Molecular Vision, 2007

Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.

Kumar A et al.

Molecular Vision, 2007

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.

Jiao X et al.

Journal of Medical Genetics, 2007

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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."