Peter Sparber Svetlana Mikhaylova Varvara Galkina Yulia Itkis Mikhail Skoblov
10.3389/fneur.2021.761892
Front Neurol
2021 Dec 6;12:761892.
dravet syndrome epilepsy functional analysis medical genetics molecular pathogenesis splicing
CC BY
https://pubmed.ncbi.nlm.nih.gov/34938262/
Case Reports
PMC8686832
34938262
Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome
2021