Presentation Information
[O5-2]Functional analysis of loss-of-function biallelic RINT1 variants responsible for infantile recurrent liver dysfunction
○Taiga Aoki1,2, Arisa Igarashi1, Kumiko Yanagi1, Masahiko Yamamori1, Takaya Iida1, Yumi Enomoto1, Nana Kobayashi1, Yukimi Abe1, Yoichi Matsubara1, Tadashi Kaname1,2 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Allergy Center, National Center for Child Health and Development, Tokyo, Japan)