Cell BiologyHuman Molecular GeneticsPeer-reviewed
Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension
Giulia Emanuelli, Jiayi Zhu, Wei Li…·Stefan John Marciniak
The paper functionally validates EIF2AK4 variants in PAH patients, finding some variants are non-pathogenic and others are hypomorphic and responsive to a kinase inhibitor.
9 citations