• Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu29Alafs*18 (c.84dupG) (c.84_85insG) (84GG); ClinVar=VCV000004302; Zygosity=Heterozygous (PubMed=19815695).
  
• Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=19815695).
  

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