Fig. 2: Schematic illustration of variant classification used in this study.
From: Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments
a Single codon or multicodon variants including missense variants and in-frame deletions. b Splice site variants. c Variants introducing a premature stop codon including nonsense and frameshift variants. Created using BioRender.com. Adapted from “Frameshift Mutations” and “RNA Processing in Eukaryotes 2” by BioRender.com (2023).
