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
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
Cagdas D et al.
Journal of Clinical Immunology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume.
Lee HK et al.
The Journal of Clinical Investigation, 2016
Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency.
Stepensky P et al.
Haematologica, 2015
B-cell memory and primary immune deficiencies: interleukin-21 related defects.
Desjardins M et al.
Current Opinion in Allergy and Clinical Immunology, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D et al.
The Journal of Experimental Medicine, 2013
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