Article

The prevalence of pathogenic variants in the BMPR2 gene in patients with idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis

2024-12-10

Abstract excerpt

<title>Abstract</title> Background Idiopathic pulmonary arterial hypertension (IPAH) is a rare and severe form of pulmonary hypertension. Genetic predisposition, especially rare variants in the <italic>BMPR2</italic> gene, plays a significant role in IPAH development, influencing disease onset and progression. More than 600 unique variants of this gene have been reported in the literature as being associated...

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Literature Corpus work: 3ae559c7-7504-5ad3-ace0-e2543acf3157
DOI: 10.21203/rs.3.rs-5387832/v1

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