Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia
VPS16 中转录本特异性功能丧失变异在肌张力障碍患者中富集
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000644
Park, Joohyun; Reilaender, Annemarie; Petry-Schmelzer, Jan N; Stöbe, Petra; Cordts, Isabell; Harmuth, Florian; Rautenberg, Maren; Woerz, Sarah E; Demidov, German; Sturm, Marc; Ossowski, Stephan; Schwaibold, Eva M C; Wunderlich, Gilbert; Paus, Sebastian; Saft, Carsten; Haack, Tobias B
