Varaico: Literature-Extracted Genetic Variants

Gene:ATOH1
Variant:p.G71delFs
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ATOH1

NM_005172.2:p.G71delFs

Associated Papers

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

Bertola N et al.

American Journal of Human Genetics, 2026

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

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

Višnjar T et al.

Neurology. Genetics, 2022

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S et al.

Molecular Psychiatry, 2017

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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."