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Novel missense variants cause intermediate phenotypes in th..:
Utsuno, Yasuhiro
;
Hamada, Keisuke
;
Hamanaka, Kohei
...
Journal of Human Genetics. 69 (2023) 2 - p. 69-77 , 2023
Link:
https://doi.org/10.1038/s10038-023-01206-5
RT Journal T1
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s10038-023-01206-5&Exemplar=1&LAN=DE A1 Utsuno, Yasuhiro A1 Hamada, Keisuke A1 Hamanaka, Kohei A1 Miyoshi, Keita A1 Tsuchimoto, Keiji A1 Sunada, Satoshi A1 Itai, Toshiyuki A1 Sakamoto, Masamune A1 Tsuchida, Naomi A1 Uchiyama, Yuri A1 Koshimizu, Eriko A1 Fujita, Atsushi A1 Miyatake, Satoko A1 Misawa, Kazuharu A1 Mizuguchi, Takeshi A1 Kato, Yasuhito A1 Saito, Kuniaki A1 Ogata, Kazuhiro A1 Matsumoto, Naomichi PB Springer Science and Business Media LLC YR 2023 SN 1434-5161 SN 1435-232X JF Journal of Human Genetics VO 69 IS 2 SP 69 OP 77 LK http://dx.doi.org/https://doi.org/10.1038/s10038-023-01206-5 DO https://doi.org/10.1038/s10038-023-01206-5 SF ELIB - SuUB Bremen
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