Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1C1
Variant:p.R281P
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ATP6V1C1

NM_001695.5:p.R281P

Associated Papers

ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice.

Yuan Q et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

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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."