학술논문
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
Document Type
Article
Author
Sörmann, J.; Proks, P.; Jouen-Tachoire, T.; Tucker, S.J.; Schewe, M.; Riel, E.B.; Baukrowitz, T.; Carpenter, E.P.; Rao, S.; Agre, K.E.; Lahner, C.; Pichurin, P.N.; Begtrup, A.; Willaert, R.; Dean, J.; Descartes, M.; Smith, K.; Fischer, J.; Porrmann, J.; Gardham, A.; Mark, P.R.; Muppidi, S.; Schallner, J.; Straub, V.; Vasudevan, P.; Rödström, K.E.J.; Hahn, M.G.; Müller, T.; Hurles, M.E.; Wright, C.F.
Source
In: Nature Genetics . (Nature Genetics, October 2022, 54(10):1534-1543)
Subject
Language
English
ISSN
15461718
10614036
10614036