Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.S707C
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PLCG2

NM_002661.5:p.S707C

Associated Papers

PLCG2 variants in cherubism.

Chester JG et al.

The Journal of Allergy and Clinical Immunology, 2024

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

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

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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."