Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
TASK3通道功能的获得和丧失及新变异对其的调控导致KCNK9印迹综合征
期刊:Genome Medicine
影响因子:10.4
doi:10.1186/s13073-022-01064-4
Margot A Cousin #, Emma L Veale #, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura