Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.R742C
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PLCG2

NM_002661.5:p.R742C

Associated Papers

Overlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review.

Akoglu G et al.

Clinical Rheumatology, 2025

Application of whole-exome sequencing to predict inborn errors of immunity in pediatric severe infections and sepsis.

Moundir A et al.

Clinical and Experimental Immunology, 2025

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.

Kovanda A et al.

International Journal of Molecular Sciences, 2024

39062917 (PubMed )
Supplement: ijms-25-07674-s001.zip › Supplementary_table_3.xlsx › ACMG_classified_variants

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.

Baysac K et al.

The Journal of Allergy and Clinical Immunology, 2024

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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."