Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.

Hongjun FeiYi WuYanlin WangJun-Yu Zhang

Published in: Molecular genetics & genomic medicine (2022)

The genetic variation spectrum of JS caused by CPLANE1 was updated. Two novel variants further deepened our insight into the disease's molecular mechanism and confirmed the significance of diagnostic whole-exome sequencing.

Keyphrases

copy number
single cell
case report
genome wide
gene expression