Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
KCNB2单等位基因变异会导致由通道失活改变引起的神经发育综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.02.014
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
