Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.

NPJ Genom Med · 2025 · PMC11937313 · PMID 40133303

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showed a trendno p-value reported

While a great tolerance to frameshift variants in SMAD6 exists in the general population (pLI score of 0), loss-of-function variants were significantly enriched in our CHD-APAH cohort and missense variants showed a trend of higher prevalence in our CHD-APAH cohort compared to the general population.

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