Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.V778delFs
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ATP6V0A4

NM_020632.3:p.V778delFs

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

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

Palazzo V et al.

Kidney International, 2017

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Stover EH et al.

Journal of Medical Genetics, 2002

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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."