Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.Y794C
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SLC4A1

NM_000342.4:p.Y794C

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

Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.

Park E et al.

Kidney & Blood Pressure Research, 2018

Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.

Ayoub EAM et al.

Jornal Brasileiro De Nefrologia, 0

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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."