Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.Q753Splc
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ATP6V0A4

NM_020632.3:p.Q753Splc

Associated Papers

Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review.

Kumagai T et al.

Bmc Nephrology, 2025

A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.

Yuan J et al.

Medicine, 2019

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.

Gao Y et al.

Renal Failure, 2014

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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."