Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.R930P
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ATP1A3

NM_152296.5:p.R930P

Associated Papers

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L et al.

Human Genetics, 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."