Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.R331Q
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ATP6V1B1

NM_001692.4:p.R331Q

Associated Papers

Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.

van den Berg G et al.

Nephron, 2024

38447554 (PubMed )
Supplement: Supplementary_material-Suppl.3-s3.pdf
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