Article

Accurate long-read sequencing identified GBA variants as a major genetic risk factor in the Luxembourg Parkinson’s study

2023-04-18

Abstract excerpt

<title>Abstract</title> Heterozygous variants in the glucocerebrosidase <italic>GBA</italic>gene are an increasingly recognized risk factor for Parkinson’s disease (PD). Due to the pseudogene <italic>GBAP1</italic> that shares 96% sequence homology with the <italic>GBA</italic>coding region, accurate variant calling by array-based or short-read sequencing methods remains a major challenge in understanding the...

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Literature Corpus work: f97cbbb3-a10e-5323-baef-a5b6a957f365
DOI: 10.21203/rs.3.rs-2751593/v1

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