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Mutations in GBA1 gene result in defective acid β‐glucosidase and the complex phenotype of Gaucher disease (GD) related to the accumulation of glucosylceramide‐laden macrophages. The phenotype is highly variable even among patients harboring identical GBA1 mutations. We hypothesize that modifier gene(s) underlie phenotypic diversity in GD and performed a GWAS study in Ashkenazi Jewish patients with...
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