Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.Y730*
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ATP6V0A4

NM_020632.3:p.Y730*

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

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.

Zhang R et al.

Human Mutation, 2021

Treatment and long-term outcome in primary distal renal tubular acidosis.

Lopez-Garcia SC et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2019

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Palazzo V et al.

Kidney International, 2017

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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."