Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.M1_A2insFs
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ATP6V1B1

NM_001692.4:p.M1_A2insFs

Associated Papers

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Stover EH et al.

Journal of Medical Genetics, 2002

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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."