Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.G418D
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SLC4A11

NM_032034.4:p.G418D

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

Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy.

Zhen T et al.

Translational Vision Science & Technology, 2023

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Chan HW et al.

Genes, 2021

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."