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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB4

Variant:p.C86*

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GJB4

NM_153212.3:p.C86*

hg38:chr1:34761512 C>A

Associated Papers

Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.

Lucaciu SA et al.

The Journal of Physiology, 2025

39817844 (PubMed )

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