Article

Is Gauchian genotyping of<i>GBA1</i>variants reliable?

2023-10-26

Abstract excerpt

Biallelic mutations in GBA1 result in Gaucher disease (GD), the inherited deficiency of glucocerebrosidase. Variants in GBA1 are also a common genetic risk factor for Parkinson disease (PD). Currently, some PD centers screen for mutant GBA1 alleles to stratify patients who may ultimately benefit from GBA1 -targeted therapeutics. However, accurately detecting variants, especially recombinant alleles resulting from...

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Literature Corpus work: c400e382-b4a0-5a17-97b4-dd10a95b79cb
DOI: 10.1101/2023.10.26.23297627

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