Varaico: Literature-Extracted Genetic Variants

Gene:ITK
Variant:p.P521L
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ITK

NM_005546.4:p.P521L

Associated Papers

Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region.

Kadhi A et al.

Dermatology Practical & Conceptual, 2025

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.

Ogishi M et al.

The Journal of Experimental Medicine, 2023

ITK deficiency presenting as autoimmune lymphoproliferative syndrome.

Wallace JG et al.

The Journal of Allergy and Clinical Immunology, 2021

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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."