Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.R76S
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ATP6V1B1

NM_001692.4:p.R76S

Associated Papers

Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.

Park E et al.

Kidney & Blood Pressure Research, 2018

Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?

Tsai HY et al.

Pediatric Nephrology (berlin, Germany), 2011

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Vivante A et al.

Nephron. Physiology, 2011

Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.

Gil H et al.

Pediatric Nephrology (berlin, Germany), 2007

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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."