Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.G175D
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ATP6V0A4

NM_020632.3:p.G175D

Associated Papers

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

Gómez-Conde S et al.

Pediatric Nephrology (berlin, Germany), 2021

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.

Kose E et al.

Renal Failure, 2014

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."