학술논문
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Document Type
Article
Author
Goodman, L.D.; Nil, Z.; Ravenscroft, T.A.; Charng, W.-L.; Lu, S.; Tien, A.-C.; Moulton, M.J.; Dutta, D.; Kanca, O.; Wangler, M.F.; Yamamoto, S.; Bellen, H.J.; Cope, H.; Tan, Q.K.-G.; Pfundt, R.; Koolen, D.A.; Haaxma, C.A.; Veenstra-Knol, H.E.; Wassink-Ruiter, J.S.K.; Wevers, M.R.; Jones, M.; Walsh, L.E.; Klee, V.H.; Theunis, M.; Legius, E.; Steel, D.; Barwick, K.E.S.; Kurian, M.A.; Mohammad, S.S.; Dale, R.C.; Terhal, P.A.; van Binsbergen, E.; Kirmse, B.; Robinette, B.; Cogné, B.; Isidor, B.; Grebe, T.A.; Kulch, P.; Hainline, B.E.; Sapp, K.; Morava, E.; Klee, E.W.; Macke, E.L.; Trapane, P.; Spencer, C.; Si, Y.; Begtrup, A.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 September 2021, 108(9):1669-1691)
Subject
Language
English
ISSN
15376605
00029297
00029297