Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B1
Variant:p.I386_N387insFs
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ATP6V1B1

NM_001692.4:p.I386_N387insFs

Associated Papers

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.

Zeinali F et al.

The Journal of Laryngology and Otology, 2014

An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria.

Copelovitch L et al.

Ndt Plus, 2010

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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."