Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.M1insFs
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ATP6V0A4

NM_020632.3:p.M1insFs

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

Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.

Gómez-Conde S et al.

Pediatric Nephrology (berlin, Germany), 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

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

Escobar LI et al.

Molecular Genetics & Genomic Medicine, 2016

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."