Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Exploring noncoding variants in genetic diseases: from detection to functional insights.
Wu K et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N et al.
Embo Molecular Medicine, 2023
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