Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches
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Pathogenic variants in GBA1 are a significant genetic risk factor for Parkinson disease (PD). Owing to high sequence homology between GBA1 and its pseudogene GBAP1, short-read NGS (srNGS) is susceptible to read misalignment, particularly in the presence of rec... ...
