Varaico: Literature-Extracted Genetic Variants

Gene:ATOH1
Variant:p.R161G
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ATOH1

NM_005172.2:p.R161G

Associated Papers

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

Bertola N et al.

American Journal of Human Genetics, 2026

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.

Višnjar T et al.

Neurology. Genetics, 2022

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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."