Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.

Fatima M Bostanova Polina G TsygankovaIlya NagornovElena DadaliLyudmila BessonovaAleksey KuleshViktor DrobakhaIrina DanchenkoIlya KanivetsEkaterina Zakharova

Published in: Genes (2023)

gene in five patients with CADASIL and described their clinical and genetic characteristics. These results expand the mutational spectrum of CADASIL.

Keyphrases

copy number
genome wide
genome wide identification
dna methylation
gene expression
genome wide analysis