Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.T166fs
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ATP6V1B1

NM_001692.4:p.T166fs

Associated Papers

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

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

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Palazzo V et al.

Kidney International, 2017

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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."