Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.N206H
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GJB2

NM_004004.6:p.N206H

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

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss.

Singh PK et al.

The Indian Journal of Medical Research, 2018

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