Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.R807*
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ATP6V0A4

NM_020632.3:p.R807*

Associated Papers

Clinical Exome Sequencing in Pediatric Patients.

Görükmez O et al.

Cureus, 2025

A case report and literature review of primary distal renal tubular acidosis resulting from a mutation in ATP6V0A4.

Chang C et al.

Frontiers in Pediatrics, 2025

Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.

Güven S et al.

Turkish Archives of Pediatrics, 2022

Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.

Liu J et al.

Renal Failure, 2018

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.

Gómez J et al.

Pediatric Research, 2016

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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."