Associated Papers
Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.
Pantea CL et al.
International Journal of Molecular Sciences, 2026
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
Reversion Mosaicism in Primary Immunodeficiency Diseases.
Miyazawa H et al.
Frontiers in Immunology, 2021
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
Albert MH et al.
Blood, 2010
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