Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.H513_R518delFs
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OTOF

NM_194248.3:p.H513_R518delFs

Associated Papers

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Wang H et al.

Human Genetics, 2024

38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.

Vona B et al.

Genes, 2020

33256196 (PubMed )
Supplement: genes-11-01411-s001.xlsx › OTOF_NM_001287489

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.

Zhang QJ et al.

Clinical Genetics, 2016

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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."