Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V27A
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GJB2

NM_004004.6:p.V27A

Associated Papers

Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.

Xu C et al.

Molecular Genetics & Genomic Medicine, 2025

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
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