Varaico: Literature-Extracted Genetic Variants

Gene:ATOH1
Variant:p.H344delFs
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ATOH1

NM_005172.2:p.H344delFs

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

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Brownstein Z et al.

Clinical Genetics, 2020

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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."