Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.D450E
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OTOF

NM_194248.3:p.D450E

Associated Papers

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

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

31095577 (PubMed )
Supplement: pone.0215932.s002.xlsx › Sheet1

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.

Iwasa Y et al.

Bmc Medical Genetics, 2013

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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."