Associated Papers
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA et al.
Journal of Clinical Immunology, 2020
32072341 (PubMed )
Supplement: 10875_2020_745_MOESM3_ESM.docx
Differential mechanisms of CDKN2A (p16) alteration in oral tongue squamous cell carcinomas and correlation with patient outcome.
Lim AM et al.
International Journal of Cancer, 2014
Common founder effect of rapsyn N88K studied using intragenic markers.
Dunne V et al.
Journal of Human Genetics, 2004
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