A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
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2. The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function – Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-02
3. Enfermedad inflamatoria intestinal de inicio muy temprano con mutación en el gen fosfolipasa gama 2 (PLCG2) y defectos de la inmunidad;Acta Pediátrica de México;2023-11-24
4. The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function – insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation;2023-11-02
5. G-CSF drives autoinflammation in APLAID;Nature Immunology;2023-03-30
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