Presentation Information
[P2-08-13]Evaluation of X chromosome inactivation using nanopore, a female case of HUWE1 duplication syndrome
○Gen Furukawa1,2, Yui Shichiri2, Hiroki Kurahashi2 (1.Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan, 2.Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Toyoake, Aichi, Japan)