Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians.
Parkinsonism & Related Disorders(2020)
摘要
•WES in an Indian early-onset PD cohort revealed 16 novel variants in known genes.•Known pathogenic variants explained 2.4% of the cohort.•Evidence for a higher genetic burden in ethnically distinct Indian population.•First report of VPS35 p.D620 N mutation from the Indian population.•Observations suggest the digenic contribution for PD, warranting further studies.
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关键词
Parkinson's disease,Indian population,Rare variant burden,Novel variants
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