Author

Cristina Forest

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Open access Sep 2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

A critical region at the 3' region of NUSAP1 is delineated, where nonsense variants introduce a premature termination codon and escape NMD, which is absent from healthy controls, while frameshift variants producing C-terminal elongations appear tolerated.

Maureen Jacob, Susann Badmann, S. Bigoni et al. · Clinical Genetics · 0 citations