Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.L845S
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PLCG2

NM_002661.5:p.L845S

Associated Papers

PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications.

Jiang P et al.

Journal of Translational Medicine, 2026

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

Akoglu G et al.

Clinical Rheumatology, 2025

Characterisation of molecular mechanisms for PLCγ2 disease-linked variants.

Bunney TD et al.

Advances in Biological Regulation, 2024

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

Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2.

Peng Q et al.

Frontiers in Immunology, 2023

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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."