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
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
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
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
Escobar LI et al.
Molecular Genetics & Genomic Medicine, 2016
Familial acidosis of renal tubular origin.
WILANSKY DL et al.
Canadian Medical Association Journal, 1960
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