SAT631 EPAS1 Mutations In Three Adjacent Nucleotides Resulting In Different Phenotypes

Disclosure: M. Alswailem: None. B. Alghamdi: None. L.A. Alobaid: None. H. Al-Hindi: None. M. Aldawish: None. O. Alsagheir: None. A.S. Alzahrani: None. EPAS1 (HIF2a) mutations have been described in patients (pts) with paragangliomas (PGL) in association with cyanotic congenital heart disease (CHD),...

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Detalles Bibliográficos
Autores principales: Alswailem, Meshael, Alghamdi, Balgees, Alobaid, Lulu Abdulaziz, Al-Hindi, Hindi, Aldawish, Mohammed, Alsagheir, Osamah, Alzahrani, Ali Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Tumor Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555106/
http://dx.doi.org/10.1210/jendso/bvad114.2201

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