Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.

Yan LinJixiang DuWei WangHong RenDandan ZhaoFuchen LiuPengfei LinKunqian JiYuying ZhaoChuanzhu Yan

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

This study expands the spectrum of known POLG variants associated with PEO and advances current understanding regarding the structural and functional impacts of these mutations.

Keyphrases

copy number
intellectual disability
genome wide identification