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Contribution of Copy Number Variation in Idiopathic Hypogonadotropic Hypogonadism

Introduction: While the role of single nucleotide variants (SNVs) in causal genes for Idiopathic Hypogonadotropic hypogonadism (IHH) is known, the contribution of copy number variants (CNVs) to IHH has not been systematically studied. Here, we examined the prevalence of CNVs in a large IHH cohort an...

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Detalles Bibliográficos
Autores principales: Stamou*, Maria, Brand*, Harrison, Lippincott, Margaret Flynn, Wong, Isaac, Plummer, Lacey, Balasubramanian, Ravikumar, Talkowski, Michael, Seminara, Stephanie Beth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089956/
http://dx.doi.org/10.1210/jendso/bvab048.1537