Publications:

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Frontiers In Neurology

Sparber, Peter P; Mikhaylova, Svetlana S; Galkina, Varvara V; Itkis, Yulia Y; Skoblov, Mikhail M

Publication Date: 2021

Variant appearance in text: SCN1A: Gly1618Cysfs

PubMed Link: 34938262

Variant Present in the following documents:

• Main text
• fneur-12-761892.pdf

View BVdb publication page