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

ConclusionsThe genetic variation spectrum of JS caused byCPLANE1 was updated. Two novel variants further deepened our insight into the disease's molecular mechanism and confirmed the significance of diagnostic whole-exome sequencing.

Source: Molecular Genetics & Genomic Medicine - January 29, 2022 Category: Genetics & Stem Cells Authors: Hongjun Fei, Yi Wu, Yanlin Wang, Junyu Zhang Tags: ORIGINAL ARTICLE Source Type: research