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A Location of the LIPA gene on chromosome 10q23.2q23.3. B Diagram of LIPA gene showing variants identified in this study. The novel variant is indicated in red. C The 3D structure of the LIPA protein was predicted by SWISS-MODEL. D Wild and mutant residue for the novel missense variant (p.His374Gln) using Dynamut tool. E Sanger sequencing chromatogram for the detected variants in available patients (homozygous) or patients’ parents (heterozygous), who completed the follow-up
