Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.

Farah QaiserYue YinCarolyn B MervisColleen A MorrisBonita P Klein-TasmanElaine TamLucy R OsborneRyan K C Yuen

Published in: Orphanet journal of rare diseases (2021)

Our study suggests that in the presence of the same pathogenic Dup7 variant, rare and low frequency genetic variants act additively to contribute to components of the overall Dup7 phenotype.

Keyphrases

copy number
gene expression
dna methylation
blood brain barrier