Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.F495S
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SLC4A1

NM_000342.4:p.F495S

Associated Papers

Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.

Yang M et al.

Frontiers in Pediatrics, 2023

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.

Guo W et al.

Clinical Genetics, 2021

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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."