Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.V137Splc
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CD40LG

NM_000074.3:p.V137Splc

Associated Papers

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

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf

Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.

Vince N et al.

Human Immunology, 2018

X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report.

Guo LI et al.

Experimental and Therapeutic Medicine, 2015

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

Wang LL et al.

Journal of Immunology Research, 2014

Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.

Jin C et al.

Molecular Vision, 2010

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 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."