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

Internet

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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