A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
ITPR3 中的一种复发性错义变异会导致脱髓鞘性夏科-马里-图斯病，严重程度不一
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae206
Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan
