Associated Papers
Five Patients With Two Novel Homozygous Variants in CD3 Subunits and Comprehensive Review of the Literature.
Sonmez G et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
Lin JH et al.
Frontiers in Genetics, 2021
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.
Urzúa B et al.
Biochemical Genetics, 2011
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