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Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

1 Dec 2018

Abstract excerpt

ulmonary arterial hypertension (PAH) is characterized by a strong genetic component. About 30% of patients with idiopathic or heritable PAH are considered to have monogenic disorders: most of these patients have heterozygous BMPR2 mutations. The causative genes, if any, in the remaining 70% of patients have yet to be clarified. In some rare diseases, relatively common pathogenic variants, together with monogenic...

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PMID: 30562119
DOI: 10.1161/circgen.118.002317

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