Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R104R
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GJB2

NM_004004.6:p.R104R

Associated Papers

Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

Bosch J et al.

Omics : a Journal of Integrative Biology, 2014

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

Kabahuma RI et al.

International Journal of Pediatric Otorhinolaryngology, 2011

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