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Reported pathogenic variants in LIPA. The 10 exons representing LIPA are shown. Included are all reported mutations in the literature and all loss-of-function mutations in ExAc and ClinVar (91). The two novel mutations identified in our study with associated reduced and deficient LAL activity are red and in bold [c.309C>A (p.Ser103Arg) and c.856G>C (p.Ala286Pro)]
