Associated Papers
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Daenen M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ et al.
Kidney International, 2018
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