Varaico: Literature-Extracted Genetic Variants

Gene:CHUK
Variant:p.P190L
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CHUK

NM_001278.5:p.P190L

Associated Papers

Human inborn errors of the alternative NF-κB pathway.

Le Voyer T et al.

Journal of Human Immunity, 2026

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

Riller Q et al.

The Journal of Experimental Medicine, 2025

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.

Riller Q et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."