Associated Papers
Screening for pulmonary veno-occlusive disease in heterozygous EIF2AK4 variant carriers.
Lechartier B et al.
The European Respiratory Journal, 2022
Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report.
Zeng X et al.
Bmc Pulmonary Medicine, 2020
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
Eyries M et al.
Nature Genetics, 2014
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