Varaico: Literature-Extracted Genetic Variants

Gene:CD81
Variant:p.K187_E188Splc
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CD81

NM_004356.4:p.K187_E188Splc

Associated Papers

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency.

Belaid B et al.

Frontiers in Immunology, 2025

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

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

van Zelm MC et al.

The Journal of Allergy and Clinical Immunology, 2014

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ et al.

The Journal of Allergy and Clinical Immunology, 2014

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.

van Zelm MC et al.

The Journal of Clinical Investigation, 2010

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