학술논문
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Document Type
Article
Author
Mah-Som, A.Y.; Shinawi, M.S.; Daw, J.; Weihl, C.C.; Huynh, D.; Chou, T.-F.; Wu, M.; Creekmore, B.C.; Lee, E.B.; Burns, W.; Skinner, S.A.; Holla, Ø.L.; Smeland, M.F.; Planes, M.; Uguen, K.; Redon, S.; Bierhals, T.; Scholz, T.; Denecke, J.; Mensah, M.A.; Sczakiel, H.L.; Tichy, H.; Verheyen, S.; Blatterer, J.; Schreiner, E.; Thies, J.; Lam, C.; Spaeth, C.G.; Pena, L.; Ramsey, K.; Narayanan, V.; Seaver, L.H.; Rodriguez, D.; Afenjar, A.; Burglen, L.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 November 2023, 110(11):1959-1975)
Subject
Language
English
ISSN
15376605
00029297
00029297