Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Pharmacogenomics And Personalized Medicine
Fonseca, Dora Janeth DJ; Morel, Adrien A; Llinás-Caballero, Kevin K; Bolívar-Salazar, David D; Laissue, Paul P
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.
Neurology
Tan, Rhea Y Y RYY; Traylor, Matthew M; Megy, Karyn K; Duarte, Daniel D; Deevi, Sri V V SVV; Shamardina, Olga O; Mapeta, Rutendo P RP; , ; Ouwehand, Willem H WH; Gräf, Stefan S; Downes, Kate K; Markus, Hugh S HS
Publication Date: 2019-11-26
Variant appearance in text: SCN1A: 1457C>G; Ala486Gly; rs777120925