An Autosomal-Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP.
Annelise Y. Mah-Som,Jil Daw, Diana Huynh, Mengcheng Wu,Benjamin C. Creekmore,William Burns,Steven A. Skinner,Oystein L. Holla,Marie F. Smeland,Marc Planes,Kevin Uguen,Sylvia Redon,Tatjana Bierhals,Tasja Scholz,Jonas Denecke,Martin A. Mensah,Henrike L. Sczakiel,Heidelis Tichy,Sarah Verheyen,Jasmin Blatterer,Elisabeth Schreiner,Jenny Thies,Christina Lam,Christine G. Spaeth,Loren Pena,Keri Ramsey,Vinodh Narayanan,Laurie H. Seaver,Diana Rodriguez,Alexandra Afenjar,Lydie Burglen,Edward B. Lee,Tsui-Fen Chou,Conrad C. Weihl,Marwan S. Shinawi The American Journal of Human Genetics（2023）
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