Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency.
Zhang N et al.
The Application of Clinical Genetics, 2025
Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).
Yao CM et al.
Journal of Clinical Immunology, 2013
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