Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.Q753Splc
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ATP6V0A4

NM_020632.3:p.Q753Splc

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

A case report and literature review of primary distal renal tubular acidosis resulting from a mutation in ATP6V0A4.

Chang C et al.

Frontiers in Pediatrics, 2025

Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.

Güven S et al.

Turkish Archives of Pediatrics, 2022

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.

Guo W et al.

Clinical Genetics, 2021

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing.

Khan N et al.

Genetic Testing and Molecular Biomarkers, 2020

A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.

Yuan J et al.

Medicine, 2019

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

Clinical and molecular aspects of distal renal tubular acidosis in children.

Besouw MTP et al.

Pediatric Nephrology (berlin, Germany), 2017

Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.

Li X et al.

International Journal of Pediatric Otorhinolaryngology, 2012

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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."