Associated Papers
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Abdel-Hamid MS et al.
Clinical Genetics, 2024
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.
Saunders CJ et al.
Human Mutation, 2015
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