• Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=19815695; PubMed=30497978).
  
• Mutation; HGNC; 4177; GBA1; Simple; p.Val433Leu (c.1297G>T) (V394L); ClinVar=VCV000004292; Zygosity=Heterozygous (PubMed=19815695; PubMed=30497978).
  

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The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
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