Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.S489W
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SLC4A11

NM_032034.4:p.S489W

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

Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.

Salman M et al.

Orphanet Journal of Rare Diseases, 2022

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