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A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease

BACKGROUND: Pulmonary veno-occlusive disease (PVOD) is a rare, progressive, and oft-fatal condition of pulmonary arterial hypertension that is typically difficult to diagnose and treat. However, with the development of next-generation sequencing technology, an increasing number of patients with PVOD...

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Detalles Bibliográficos
Autores principales: Zhang, Chun, Du, Qiang, Wang, Sha, Zhang, Ruifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710057/
https://www.ncbi.nlm.nih.gov/pubmed/36451176
http://dx.doi.org/10.1186/s12890-022-02256-9

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