Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.R488K
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SLC4A11

NM_032034.4:p.R488K

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

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.

Liskova P et al.

Ophthalmic Research, 2015

The IC3D classification of the corneal dystrophies.

Weiss JS et al.

Cornea, 2008

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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."