Article
Genetics and precision genomics approaches to pulmonary hypertension.
The European respiratory journal - 1 Oct 2024
Austin Eric D, Aldred Micheala A, Alotaibi Mona, Gräf Stefan, Nichols William C, Trembath Richard C, Chung Wendy K
Abstract excerpt
Considerable progress has been made in the genomics of pulmonary arterial hypertension (PAH) since the 6th World Symposium on Pulmonary Hypertension, with the identification of rare variants in several novel genes, as well as common variants that confer a modest increase in PAH risk. Gene and variant curation by an expert panel now provides a robust framework for knowing which genes to test and how to interpret...
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