Is Gauchian genotyping of GBA1 variants reliable?

Abstract excerpt

Gaucher disease (GD) results from biallelic pathogenic variants in the gene GBA1 , which encodes the lysosomal enzyme glucocerebrosidase (E.C.3.2.1.45). Over 500 pathogenic variants in GBA1 , located on chromosome 1q21, have been identified in patients with GD 1 , 2 . Variants in GBA1 are also the most common known genetic risk factor for Parkinson disease (PD) and dementia with Lewy bodies (DLB) 3 , 4 , 5 , 6 ....

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