Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.M343_E344Splc
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ATP6V0A4

NM_130841.3:p.M343_E344Splc

Associated Papers

Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Oh J et al.

Clinical Genetics, 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

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."