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Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 ? recapitulate the mitochondriopathy of the homologous null mouse.

Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 ? recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat. 2015 Mar; 36(3):301-6.

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