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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.L79del1

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GJB2

NM_004004.6:p.L79del1

hg38:chr13:20189343 TGCA>T

Associated Papers

Promotion of Cx26 mutants located in TM4 region for membrane translocation successfully rescued hearing loss.

Zong YJ et al.

Theranostics, 2025

40365300 (PubMed )

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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."