Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.C386R
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SLC4A11

NM_032034.4:p.C386R

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

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS33_het

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations.

Kumawat BL et al.

Indian Journal of Ophthalmology, 2016

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.

Ramprasad VL et al.

Human Mutation, 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."