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Comprehensive analysis of <i>GBA</i> using a novel algorithm for Illumina whole-genome sequence data or targeted Nanopore sequencing

2021-11-13

Abstract excerpt

GBA variants cause the autosomal recessive Gaucher disease, and carriers are at increased risk of Parkinson’s disease (PD) and Lewy body dementia (LBD). The presence of a highly homologous nearby pseudogene ( GBAP1 ) predisposes to a range of structural variants arising from either gene conversion or reciprocal recombination, the latter resulting in copy number gains or losses, complicating genetic testing and ana...

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Identifiers and source

Literature Corpus work
3c261f67-0a83-50d6-aa7a-d82a39fe965a
DOI
10.1101/2021.11.12.21266253
Open publication

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