Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
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41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
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
Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families.
Romero PT et al.
Ophthalmic Genetics, 2019
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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