Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.R315*
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ATP6V1B1

NM_001692.4:p.R315*

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Etiology and outcomes of primary renal tubular acidosis.

Priyadarshini S et al.

Pediatric Nephrology (berlin, Germany), 2025

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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