Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A49_D50del2
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GJB2

NM_004004.6:p.A49_D50del2

Associated Papers

Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.

Lu J et al.

Archives of Gynecology and Obstetrics, 2025

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."