Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.C37G
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CD40

NM_001250.6:p.C37G

Associated Papers

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.

Banday AZ et al.

Journal of Clinical Immunology, 2023

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Barbouche MR et al.

Frontiers in Immunology, 2017

Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.

Ouadani H et al.

Immunogenetics, 2016

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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."