Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K52_I53Splc
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CD40LG

NM_000074.3:p.K52_I53Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.

Phan ANL et al.

Molecular Genetics & Genomic Medicine, 2021

Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.

Du X et al.

Scandinavian Journal of Immunology, 2019

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.

Bucciol G et al.

The Journal of Allergy and Clinical Immunology, 2019

Inherited and acquired clinical phenotypes associated with neuroendocrine tumors.

Nicolaides RE et al.

Current Opinion in Allergy and Clinical Immunology, 2017

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.

Wang LL et al.

Journal of Immunology Research, 2014

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."