De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
March 2019
in “
European Journal of Human Genetics
”
whole-exome sequencing copy number variation de novo variant PLCB1 MT-ND5 ALS ARHGAP11B schizophrenia schizotypal personality disorder RASD2 CNV duplication CD38 autism spectrum disorder AADAC Tourette's syndrome genetic mechanisms phenotypic discordance MZ twins variable penetrance expressivity epigenetic factors
Studysummary This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
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