• Media type: E-Article
  • Title: Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
  • Contributor: Utsuno, Yasuhiro; Hamada, Keisuke; Hamanaka, Kohei; Miyoshi, Keita; Tsuchimoto, Keiji; Sunada, Satoshi; Itai, Toshiyuki; Sakamoto, Masamune; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Miyatake, Satoko; Misawa, Kazuharu; Mizuguchi, Takeshi; Kato, Yasuhito; Saito, Kuniaki; Ogata, Kazuhiro; Matsumoto, Naomichi
  • Published: Springer Science and Business Media LLC, 2024
  • Published in: Journal of Human Genetics, 69 (2024) 2, Seite 69-77
  • Language: English
  • DOI: 10.1038/s10038-023-01206-5
  • ISSN: 1434-5161; 1435-232X
  • Origination:
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