Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V190V
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GJB2

NM_004004.6:p.V190V

Associated Papers

Analyses of GJB2 status in hereditary and non-syndromic hearing loss cases in Turkey reveal pathogenicity of rare c.247_249delTTC variant.

Tümer S et al.

International Journal of Pediatric Otorhinolaryngology, 2026

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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."