A neurodegenerative mitochondrial disease phenotype due to biallelic loss ‐of‐function variants in PNPLA8 encoding calcium‐independent phospholipase A2γ

American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1232-1237, May 2018.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Source Type: research