Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.N727S
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OTOF

NM_194248.3:p.N727S

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

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

[Application of next generation sequencing and Sanger sequencing in a pedigree affected with hereditary non-syndromic deafness].

Ren S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

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

Zhang QJ et al.

Clinical Genetics, 2016

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

Iwasa Y et al.

Bmc Medical Genetics, 2013

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

Wang J et al.

Plos One, 2011

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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."