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
Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.
Ay E et al.
Audiology & Neuro-otology, 2023
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.
Chen L et al.
Cell Death & Disease, 2020
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.
Yuan J et al.
Medicine, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
Zhao X et al.
Bmc Nephrology, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.
Nagara M et al.
European Journal of Medical Genetics, 2018
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
Andreoletti G et al.
Journal of Medical Genetics, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
Kose E et al.
Renal Failure, 2014
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
Elhayek D et al.
Bmc Medical Genetics, 2013