Articles with "bmpr2 rare" as a keyword



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The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population.

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Published in 2020 at "International journal of cardiology"

DOI: 10.1016/j.ijcard.2020.06.068

Abstract: BACKGROUND Mutations in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2) are the most common genetic risk factors underlying pulmonary arterial hypertension (PAH). However, the features of PAH-related BMPR2 rare variants remain unclear.… read more here.

Keywords: rare variants; bmpr2 rare; bmpr2; reference population ... See more keywords