Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.L1012V
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PLCG2

NM_002661.5:p.L1012V

Associated Papers

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

Akoglu G et al.

Clinical Rheumatology, 2025

Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept.

Kang Z et al.

Molecular and Cellular Pediatrics, 2025

A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia.

Itakura T et al.

Rheumatology (oxford, England), 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."