Varaico: Literature-Extracted Genetic Variants

Gene:LCP2
Variant:p.R204W
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LCP2

NM_005565.5:p.R204W

Associated Papers

Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.

IJspeert H et al.

Immunotherapy Advances, 2024

Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants.

Edwards ESJ et al.

The Journal of Allergy and Clinical Immunology, 2023

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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."