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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD40

Variant:p.N86Splc

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CD40

NM_001250.6:p.N86Splc

hg38:chr20:46122608 A>T

Associated Papers

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

Banday AZ et al.

Journal of Clinical Immunology, 2023

38129705 (PubMed )

Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.

Azarsiz E et al.

Journal of Clinical Immunology, 2011

20924659 (PubMed )

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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."