Artem Sharkov Peter Sparber Anna Stepanova Denis Pyankov Sergei Korostelev Mikhail Skoblov
10.3389/fgene.2022.888481
Front Genet
2022 May 31;13:888481.
dravet syndrome kabuki syndrome scn2a deep phenotyping functional analysis
CC BY
https://pubmed.ncbi.nlm.nih.gov/35711923/
Case Reports
PMC9194094
35711923
Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene
2022