Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.H79delFs
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COCH

NM_004086.3:p.H79delFs

Associated Papers

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

Aliazami F et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Targeted next-generation sequencing of deaf patients from Southwestern China.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Downie L et al.

European Journal of Human Genetics : Ejhg, 2020

A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.

Liu Y et al.

Plos One, 2019

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.

Plevova P et al.

Medicina (kaunas, Lithuania), 2018

Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.

Xing J et al.

Balkan Journal of Medical Genetics : Bjmg, 2016

Republished: Genetic investigations in childhood deafness.

Parker M et al.

Postgraduate Medical Journal, 2015

Genetic investigations in childhood deafness.

Parker M et al.

Archives of Disease in Childhood, 2015

Genetics of hearing and deafness.

Angeli S et al.

Anatomical Record (hoboken, N.j. : 2007), 2012

The genetic bases for non-syndromic hearing loss among Chinese.

Ouyang XM et al.

Journal of Human Genetics, 2009

[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].

Tian G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.

Schrijver I et al.

Expert Review of Molecular Diagnostics, 2006

Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.

Schrijver I

The Journal of Molecular Diagnostics : Jmd, 2004

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M

British Medical Bulletin, 2002

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R et al.

Human Mutation, 2000

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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."