Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R184W
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GJB6

NM_001110219.3:p.R184W

Associated Papers

Systematic Review of Pathogenic GJB2 Variants in the Latino Population.

Bouzaher MH et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.

Amorini M et al.

Annals of Human Genetics, 2015

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

Matos TD et al.

International Journal of Audiology, 2013

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.

del Castillo FJ et al.

Frontiers in Bioscience (landmark Edition), 2011

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

Yang JJ et al.

Audiology & Neuro-otology, 2007

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

Houseman MJ et al.

Journal of Medical Genetics, 2001

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Kenneson A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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