학술논문
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Document Type
Article
Author
Bhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenço, Charles Marques; Stoler, Joan M.; Louie, Raymond J.; Clarkson, Lola K.; Lichty, Angie; Koboldt, Daniel C.; Reshmi, Shalini C.; Sisodiya, Sanjay M.; Hoytema van Konijnenburg, Eva M.M.; Koop, Klaas; van Hasselt, Peter M.; Démurger, Florence; Dubourg, Christèle; Sullivan, Bonnie R.; Hughes, Susan S.; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M.
Source
In The American Journal of Human Genetics 4 April 2024 111(4):761-777
Subject
Language
ISSN
0002-9297