Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R698T
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OTOF

NM_194248.3:p.R698T

Associated Papers

The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.

Ford CL et al.

Human Genetics, 2023

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

Vona B et al.

Genes, 2020

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."