Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.K168R
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GJB6

NM_001110219.3:p.K168R

Associated Papers

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.

Buonfiglio P et al.

Genes, 2020

Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.

da Silva-Costa SM et al.

Genetic Testing and Molecular Biomarkers, 2011

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

Gravina LP et al.

International Journal of Pediatric Otorhinolaryngology, 2010

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

Alexandrino F et al.

American Journal of Medical Genetics. Part A, 2009

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Batissoco AC et al.

Ear and Hearing, 2009

Molecular study in Brazilian cochlear implant recipients.

Christiani TV et al.

American Journal of Medical Genetics. Part A, 2007

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J et al.

American Journal of Medical Genetics. Part A, 2007

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

Felix F et al.

Brazilian Journal of Otorhinolaryngology, 0

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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."