Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.P137S
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ATP6V1B1

NM_001692.4:p.P137S

Associated Papers

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.

Guo W et al.

Clinical Genetics, 2021

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.

Zhang R et al.

Human Mutation, 2021

Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.

Liu J et al.

Renal Failure, 2018

Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.

Zhang R et al.

Genetic Testing and Molecular Biomarkers, 2018

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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."