Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.P154_R157del4
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ATP6V1B1

NM_001692.4:p.P154_R157del4

Associated Papers

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

Escobar LI et al.

Molecular Genetics & Genomic Medicine, 2016

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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."