Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.R808_Y818delFs
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SLC4A1

NM_000342.4:p.R808_Y818delFs

Associated Papers

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

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Desir J 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."