Article

A population scale analysis of rare <i>SNCA</i> variation in the UK Biobank

2020-08-14

Abstract excerpt

Parkinson’s disease (PD) is a complex neurodegenerative disease with a variety of genetic and environmental factors contributing to disease. The SNCA gene encodes for the alpha-synuclein protein which plays a central role in PD, where aggregates of this protein are one of pathological hallmarks of disease. Rare point mutations and copy number gains of the SNCA gene have been shown to cause autosomal dominant PD an...

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Literature Corpus work: 085f5111-c426-5637-81f1-5763712c782b
DOI: 10.1101/2020.08.11.20172866

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