Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.G200A
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GJB2

NM_004004.6:p.G200A

Associated Papers

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

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

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