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