| BMPR2 | Bone morphogenetic protein receptor 2 |
| BPA | Balloon pulmonary angioplasty |
| CADD | Combined annotation dependent depletion |
| CTEPH | Chronic thromboembolic pulmonary hypertension |
| DOAJ | Directory of open access journals |
| gnomAD | Genome aggregation database |
| JAK2 | Janus kinase 2 |
| MDPI | Multidisciplinary Digital Publishing Institute |
| NGS | Next generation sequencing |
| PAH | Pulmonary arterial hypertension |
| PEA | Pulmonary endarterectomy |
| PH | Pulmonary hypertension |
| VUS | Variant of uncertain significance |
| WHO | World Health Organization |
| WU | Wood units |
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