Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.M174R
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ATP6V1B1

NM_001692.4:p.M174R

Associated Papers

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.

Zhao X et al.

Bmc Nephrology, 2018

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

Vivante A et al.

Nephron. Physiology, 2011

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.

Fuster DG et al.

Kidney International, 2008

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

Karet FE et al.

Nature Genetics, 1999

Development and Diseases of the Collecting Duct System.

Chen L et al.

Results and Problems in Cell Differentiation, 0

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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."