Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders

作者：Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Yasuhito Kato, Kuniaki Saito, Kazuhiro Ogata, Naomichi Matsumoto · 发表于：Journal of Human Genetics · 年份：2023 · DOI：10.1038/s10038-023-01206-5 · 被引用次数：12 · 研究领域：Biotin and Related Studies、Cellular transport and secretion、Genetic Neurodegenerative Diseases