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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Familial distal renal tubular acidosis.
Zhang L et al.
The Journal of International Medical Research, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.
Yuan J et al.
Medicine, 2019
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.
Zhang R et al.
Genetic Testing and Molecular Biomarkers, 2018
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
Escobar LI et al.
Molecular Genetics & Genomic Medicine, 2016
Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
Gao Y et al.
Renal Failure, 2014
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Liu J et al.
Nature Communications, 2014
24807215 (PubMed )
Supplement: ncomms4830-s5.xls › S4-Tumor_mutations
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH et al.
Journal of Medical Genetics, 2002
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