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

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

http://link.springer.com/10.1007/s10072-021-05380-2

Source: Neurological Sciences - June 29, 2021 Category: Neurology Source Type: research