Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.R449C
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ATP6V0A4

NM_020632.3:p.R449C

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

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Etiology and outcomes of primary renal tubular acidosis.

Priyadarshini S et al.

Pediatric Nephrology (berlin, Germany), 2025

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

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Palazzo V et al.

Kidney International, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

Nagara M et al.

Genetic Testing and Molecular Biomarkers, 2014

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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."