Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.F83del1
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GJB2

NM_004004.6:p.F83del1

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

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

33126609 (PubMed )
Supplement: life-10-00258-s001.pdf

The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.

Petersen MB et al.

International Journal of Pediatric Otorhinolaryngology, 2012

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