Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.E594K
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OTOF

NM_194248.3:p.E594K

Associated Papers

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Iwasa YI et al.

Human Genetics, 2022

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Iwasa YI et al.

Human Genetics, 2022

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

Vona B et al.

Genes, 2020

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

Iwasa YI et al.

Plos One, 2019

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

Wang J et al.

Plos One, 2011

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

Wang DY et al.

Bmc Medical Genetics, 2010

[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy].

Liu Q et al.

Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2010

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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."