Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L817H
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UNC13D

NM_199242.3:p.L817H

Associated Papers

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.

Alioua N et al.

Journal of Human Immunity, 2025

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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."