Combined Clinical, Structural, and Cellular Studies Discriminate Pathogenic and Benign TRPV4 Variants
Sarah H. Berth, Linh Vo,Do Hoon Kwon,Tiffany Grider, Yasmine S. Damayanti, Gage Kosmanopoulos, Andrew Fox,Alexander R. Lau, Patrice Carr,Jack K. Donohue,Maya Hoke,Simone Thomas,Chafic Karam, Alex J. Fay,Ethan Meltzer,Thomas O. Crawford,Rachelle Gaudet,Michael E. Shy,Ute A. Hellmich,Seok-Yong Lee,Charlotte J. Sumner,Brett A. Mccray BRAIN（2024）
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TRPV4,neuropathy,Charcot-Marie-Tooth disease,skeletal dysplasia,RhoA,calcium signalling
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