Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.R770*
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ATP6V0A4

NM_020632.3:p.R770*

Associated Papers

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

Importance of early audiologic assessment in distal renal tubular acidosis.

Swayamprakasam AP et al.

International Medical Case Reports Journal, 2011

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

Vargas-Poussou R et al.

Journal of the American Society of Nephrology : Jasn, 2006

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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."