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Exome sequencing in Asian populations identifies rare deficientSMPD1alleles that increase risk of Parkinson’s disease

2023-08-06

Abstract excerpt

Parkinson’s disease is an incurable and progressive disease that adversely affects balance, muscle control, and movement. We hypothesized that the landscape of rare, protein-altering genetic variants could provide further mechanistic insights into disease pathogenesis. We performed whole-exome sequencing on 4,298 persons with Parkinson’s disease and 5,512 unaffected controls from Singapore, Malaysia, Hong Kong, So...

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Literature Corpus work: 6572e99a-e2d8-5270-b21d-e290b2cc3367
DOI: 10.1101/2023.08.03.23293387

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Exome sequencing in Asian populations identifies rare deficient<i>SMPD1</i>alleles that increase risk of Parkinson’s disease

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