Associated Papers
Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.
Kökcü Karadağ Şİ et al.
Scandinavian Journal of Immunology, 2026
Inhibition of the NLR pathway alleviates MAPK1 mutation-driven proliferation and differentiation deficits and enhanced apoptosis in P19 cells.
Lei T et al.
Tissue & Cell, 2025
A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13.
Tabassum S et al.
Journal of Clinical Immunology, 2025
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