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Functional Characterization of Glucocorticoid Receptor Variants Is Required to Avoid Misinterpretation of NGS Data

Recent advances in genetic analysis technologies such as next-generation sequencing (NGS) have considerably increased the incidental discovery of genetic abnormalities. Six heterozygous missense mutations of the human glucocorticoid receptor (GR; encoded by the NR3C1 gene) have been identified in th...

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Detalles Bibliográficos
Autores principales:	Foussier, Loïc, Vitellius, Géraldine, Bouligand, Jérôme, Amazit, Larbi, Bouvattier, Claire, Young, Jacques, Trabado, Séverine, Lombès, Marc
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467410/ https://www.ncbi.nlm.nih.gov/pubmed/31008420 http://dx.doi.org/10.1210/js.2019-00028

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