PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.1041509
Abstract: Objective To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity. Methods Clinical data and peripheral blood samples… read more here.
Keywords: low vaf; group; pcdh19; vaf group ... See more keywords