Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.R79delFs
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KCNQ4

NM_004700.4:p.R79delFs

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

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Wu CC et al.

Genes, 2019

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.

Plevova P et al.

Medicina (kaunas, Lithuania), 2018

The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.

Huang S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

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

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.

Lu Y et al.

Journal of Human Genetics, 2014

25231367 (PubMed )
Supplement: jhg201478x6.doc

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Naito T et al.

Plos One, 2013

Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method.

Wang WH et al.

Audiology & Neuro-otology, 2010

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

Schrijver I et al.

Expert Review of Molecular Diagnostics, 2006

The role of connexins in human disease.

Chang EH et al.

Ear and Hearing, 2003

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

Rabionet R et al.

Human Mutation, 2000

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

Kudo T et al.

American Journal of Medical Genetics, 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."