Fig. 1: Kaplan–Meier estimated probabilities of the impact of the type of pathogenic variant in the FBN1 gene as a function of age. | Genetics in Medicine

Fig. 1: Kaplan–Meier estimated probabilities of the impact of the type of pathogenic variant in the FBN1 gene as a function of age.

From: Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Fig. 1

Comparisons of survival (top), or aortic dissection or surgery (bottom). Left panel: all patients included in the study. Middle panel: patients with premature termination codon (PTC) (blue) vs. in-frame pathogenic variants (red). Right panel: patients with in-frame pathogenic variants associated with cysteine loss ([-Cys] in red), addition ([+Cys] in blue), or no fibrillin-1 protein cysteine content change ([noCys] in green).

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