Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

Mei YangHanbing XieBocheng XuQinqin XiangHe WangTing Hu Shanling Liu

Published in: Journal of clinical laboratory analysis (2021)

Our results indicate that WES is effective in extending the EXT mutational spectra and is advantageous for genetic counseling and the subsequent prenatal diagnosis.

Keyphrases

genome wide
smoking cessation
bioinformatics analysis
density functional theory
hiv testing
copy number
dna methylation
gene expression
hepatitis c virus
molecular dynamics