학술논문
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Document Type
Article
Author
Parthasarathy, S.; Ruggiero, S.M.; Lusk, L.; Wilmarth, O.; McDonnell, P.P.; Helbig, I.; Cuddapah, V.A.; Pierce, S.R.; Xie, H.M.; Gelot, A.; Soardi, F.C.; Pena, S.D.J.; Ribeiro, B.F.R.; Pires, D.E.V.; Ascher, D.B.; Schmitt, A.; Rambaud, C.; Represa, A.; Juarez, O.A.; Grace, A.N.; Buratti, J.; Mignot, C.; Nava, C.; Keren, B.; Gras, D.; Kennedy, B.C.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 December 2022, 109(12):2253-2269)
Subject
Language
English
ISSN
15376605
00029297
00029297