Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.S232N
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SLC4A11

NM_032034.4:p.S232N

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

The IC3D classification of the corneal dystrophies.

Weiss JS et al.

Cornea, 2008

Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.

Aldave AJ et al.

Cornea, 2007

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