Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.G313R
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ATP6V1B1

NM_001692.4:p.G313R

Associated Papers

Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.

Mathew V et al.

Pediatric Nephrology (berlin, Germany), 2025

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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."