Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.N86Splc
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CD40

NM_001250.6:p.N86Splc

Associated Papers

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

Banday AZ et al.

Journal of Clinical Immunology, 2023

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Haematopoietic stem cell transplant for hyper-IgM syndrome due to CD40 defects: a single-centre experience.

Al-Saud B et al.

Bone Marrow Transplantation, 2019

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients.

Al-Saud BK et al.

Journal of Clinical Immunology, 2013

Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST.

Al-Dhekri H et al.

Clinical Immunology (orlando, Fla.), 2012

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI et al.

Blood, 2005

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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."