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Functional significance of germline EPAS1 variants

Mosaic or somatic EPAS1 mutations are associated with a range of phenotypes including pheochromocytoma and/or paraganglioma (PPGL), polycythemia and somatostatinoma. The pathogenic potential of germline EPAS1 variants however is not well understood. We report a number of germline EPAS1 variants occu...

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Detalles Bibliográficos
Autores principales:	Dwight, Trisha, Kim, Edward, Bastard, Karine, Benn, Diana E, Eisenhofer, Graeme, Richter, Susan, Mannelli, Massimo, Rapizzi, Elena, Prejbisz, Aleksander, Pęczkowska, Mariola, Pacak, Karel, Clifton-Bligh, Roderick
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989857/ https://www.ncbi.nlm.nih.gov/pubmed/33300499 http://dx.doi.org/10.1530/ERC-20-0280

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