Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.G11_I23delFs
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GJB2

NM_004004.6:p.G11_I23delFs

Associated Papers

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Sansović I et al.

Croatian Medical Journal, 2024

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Markova T et al.

Journal of Personalized Medicine, 2022

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Bliznetz EA et al.

Journal of Human Genetics, 2017

Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.

Beck C et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015

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

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

Janecke AR et al.

Human Genetics, 2002

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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."