Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.F126S
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ATP6V1B1

NM_001692.4:p.F126S

Associated Papers

Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.

Thakare S et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Tollefson MR et al.

Human Genetics, 2023

37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1
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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."