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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

James S Acierno1,2, Cheng Xu1, Georgios E Papadakis1,3

  • 1Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 30, 2020
PubMed
Abstract

Keywords:
CHD7FGFR1copy-number variationhypogonadotropic hypogonadismpostzygotic mosaicism

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