Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K52_I53Splc
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CD40LG

NM_000074.3:p.K52_I53Splc

Associated Papers

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.

Wang L et al.

Mycopathologia, 2022

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.

Liu L et al.

Frontiers in Cellular and Infection Microbiology, 2022

Talaromyces Marneffei Infection in an HIV-Negative Child with a CARD9 Mutation in China: A Case Report and Review of the Literature.

You CY et al.

Mycopathologia, 2021

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

Du X et al.

Scandinavian Journal of Immunology, 2019

Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children.

Lee PP et al.

Frontiers in Immunology, 2019

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."