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Variations identified in PLA2G6 gene. c.2239C>T, p.R747W variant in Cases 1 and 2 (a), c.1786C>T, p.L596F variation in Case 3 (b) and c.1765_1768delTCTG, p.Ser589Thrfs*76 and c.1898C>T, p.A633V variations in Case 4 (c). Black boxes indicate affected family members that are homozygous for the variation. Electropherograms are shown below. Domain structure of the PLA2G6 gene indicating the position of the mutations (modified from Engel et al. 2010) (d)
