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OR06-3 ESR1 Pathogenic Variant With Incomplete Estrogen Insensitivity

INTRODUCTION: Estrogen is vital to human reproduction and acts primarily through two receptors: estrogen receptor alpha (ERα, encoded by ESR1) and estrogen receptor beta (ERβ, encoded by ESR2). Surprisingly, very few human ESR1 pathogenic variants have been recognized, despite the existence of >1...

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Detalles Bibliográficos
Autores principales: Chorich, Lynn P, Diamond, Michael P, Hall, Janet E, Korach, Kenneth S, Layman, Lawrence C, Li, Yin, Liu, Haitao, Roman, Robert A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625829/
http://dx.doi.org/10.1210/jendso/bvac150.1401