Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.L848del1
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PLCG2

NM_002661.5:p.L848del1

Associated Papers

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

Akoglu G et al.

Clinical Rheumatology, 2025

Case Report: de novo in-frame deletion in PLCG2 gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa.

Wu X et al.

Frontiers in Immunology, 2025

APLAID complicated with arrhythmogenic dilated cardiomyopathy caused by a novel PLCG2 variant.

Wang T et al.

Immunologic Research, 2024

Phospholipase C families: Common themes and versatility in physiology and pathology.

Katan M et al.

Progress in Lipid Research, 2020

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Martín-Nalda A et al.

Journal of Clinical Immunology, 2020

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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."