A novel activating somatic mutation in EPAS1, coding for HIF-2α, in a patient with a paraganglioma and sickle cell disease
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Abstract Pheochromocytomasand paragangliomas (collectively referred as PPGLs) are highly heritable neoplasms arise from chromaffin cells of neural crest tissues; 40% of patients with PPGLs harbour germline pathogenic var...
LCC LCC:Medicine; LCC:Diseases of the endocrine glands. Clinical endocrinologyIdioma eng
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