Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.S707P
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PLCG2

NM_002661.5:p.S707P

Associated Papers

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

Akoglu G et al.

Clinical Rheumatology, 2025

G-CSF drives autoinflammation in APLAID.

Mulazzani E et al.

Nature Immunology, 2023

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

Welzel T et al.

Journal of Clinical Medicine, 2022

A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.

Park HS et al.

European Journal of Medical Genetics, 2022

Resistance-Associated Mutations in Chronic Lymphocytic Leukemia Patients Treated With Novel Agents.

Sedlarikova L et al.

Frontiers in Oncology, 2020

Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder.

Walliser C et al.

Oncotarget, 2018

Are BTK and PLCG2 mutations necessary and sufficient for ibrutinib resistance in chronic lymphocytic leukemia?

Lampson BL et al.

Expert Review of Hematology, 2018

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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."