A Recurrent Missense Variant in ITPR3 Causes Demyelinating Charcot-Marie-Tooth with Variable Severity.
Danique Beijer,Maike F. Dohrn,Adriana Rebelo,Matt C. Danzi,Bianca Rose Grosz,Melina Ellis,Kishore R. Kumar,Steve Vucic,Horia Vais,Jillian S. Weissenrieder, Olesia Lunko,Usha Paudel, Leah C. Simpson,Vladimir Camarena,Jacquelyn Raposo,Mario Saporta, Yeisha Arcia,Isaac Xu,Shawna Feely,Christopher J. Record,Julian Blake,Mary M. Reilly,Steven S. Scherer,Marina Kennerson,Yi-Chung Lee,J. Kevin Foskett,Michael E. Shy, Stephan Inherited Neuropathy Consortium,Stephan Zuchner BRAIN（2024）
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demyelinating Charcot-Marie-Tooth disease,next-generation sequencing,inositol 1,4,5-trisphosphate
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