Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.T213_K214Splc
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ATP6V0A4

NM_020632.3:p.T213_K214Splc

Associated Papers

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

Guo W et al.

Clinical Genetics, 2021

Distal renal tubular acidosis: genetic causes and management.

Soares SBM et al.

World Journal of Pediatrics : Wjp, 2019

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 utility in infants with suspected monogenic conditions through next-generation sequencing.

Hong S et al.

Molecular Genetics & Genomic Medicine, 2019

Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.

Zhang R et al.

Genetic Testing and Molecular Biomarkers, 2018

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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."