Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.

Hua-Wei LiBing-Xiang MaYa-Min KongHong ZhengXue-Yuan Zhang

Published in: Molecular genetics & genomic medicine (2022)

This finding expands the spectra of EVEN-plus syndrome phenotype and pathogenic variants and suggests that c.882_c.883delAG may have a higher distribution frequency in East Asian populations.

Keyphrases

copy number
case report
machine learning
single cell
gene expression
genome wide
data analysis