Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R518fs
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OTOF

NM_194248.3:p.R518fs

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Quaio CRAC et al.

Frontiers in Genetics, 2022

36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.

Chiu YH et al.

Audiology & Neuro-otology, 2010

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

Romanos J et al.

Journal of Human Genetics, 2009

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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."