Article

Functional validation of <i>EIF2AK4</i> (GCN2) missense variants associated with pulmonary arterial hypertension

2024-01-30

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a disorder with a large genetic component. Biallelic mutations of EIF2AK4 , which encodes the kinase GCN2, are causal in two ultra-rare subtypes of PAH, pulmonary veno-occlusive disease and pulmonary capillary haemangiomatosis. EIF2AK4 variants of unknown significance have also been identified in patients with classical PAH, though their relationship to disease remains un...

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Literature Corpus work: 6f09938b-66c1-5f80-b520-351bc8366163
DOI: 10.1101/2024.01.27.577559

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