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Description

Covalent targeting of splicing in T cells

This clinical heterogeneity and unclear pathophysiological mechanism pose significant challenges to treatment and therapeutic advances

There are complex scenarios in which WES must be expanded to whole-genome sequencing (WGS)thus engaging with the remaining 98.5% of the genomewhen intronic regions of potential clinical relevance are suspectedfor instance, non-exonic pathogenic variants (Hiraide et al., 2022)