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Rare and Low Frequency Genomic Variants Impacting Neuronal Functions Modify the Dup7q11.23 Phenotype

The Hospital for Sick Children,Yin Yue,Mervis Carolyn B.,Morris Colleen A.,Klein-Tasman Bonita P.,Tam Elaine,Osborne Lucy R.

Orphanet Journal of Rare Diseases（2021）

Cited 6|Views43
Key words
7q11.23 duplication syndrome,Autism spectrum disorder,Phenotypic variability,Single nucleotide variant,Copy number variant,Whole genome sequencing
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