Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.R394L
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ATP6V1B1

NM_001692.4:p.R394L

Associated Papers

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.

Sinha R et al.

Pediatric Nephrology (berlin, Germany), 2022

Inherited Renal Tubulopathies-Challenges and Controversies.

Iancu D et al.

Genes, 2020

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