Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.G410R
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SLC4A11

NM_001174089.2:p.G410R

Associated Papers

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1

Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas.

Khan AO et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2016

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Kodaganur SG et al.

Molecular Vision, 2013

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.

Aldahmesh MA et al.

Investigative Ophthalmology & Visual Science, 2009

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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."