Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.I30L
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GJB2

NM_004004.6:p.I30L

Associated Papers

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.

Posukh OL et al.

Biomolecules, 2023

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

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
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