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