Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.E161del1
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ATP6V1B1

NM_001692.4:p.E161del1

Associated Papers

Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease.

Jiang Y et al.

Renal Failure, 2025

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.

Ay E et al.

Audiology & Neuro-otology, 2023

Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.

Atmis B et al.

Pediatric Nephrology (berlin, Germany), 2020

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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."