Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.M1I
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CD40

NM_001250.6:p.M1I

Associated Papers

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

Fekadu-Siebald J et al.

Blood Advances, 2025

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

Banday AZ et al.

Journal of Clinical Immunology, 2023

Aspirin & clopidogrel non-responsiveness & its association with genetic polymorphisms in patients with myocardial infarction.

Pandey CP et al.

The Indian Journal of Medical Research, 2019

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

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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."