Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R1676C
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OTOF

NM_194248.3:p.R1676C

Associated Papers

Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.

Xiang YB et al.

Molecular Genetics & Genomic Medicine, 2020

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

Vona B et al.

Genes, 2020

Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing.

Intarajak T et al.

Cancers, 2019

31336886 (PubMed )
Supplement: cancers-11-00977-s001.zip › supplementary_file › supplementary_table_2.xlsx › somati_normal_polyp

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

Tang F et al.

Bmc Medical Genetics, 2017

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

Iwasa Y et al.

Bmc Medical Genetics, 2013

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.

Matsunaga T et al.

Clinical Genetics, 2012

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."