Article

Assessment of private variants in <i>PRKN, PARK7</i> and <i>PINK1</i> in Parkinson’s disease

2022-02-27

Abstract excerpt

Recessive mutations in PRKN, PARK7 and PINK1 are established causes of early-onset Parkinson’s disease (EOPD). Previous studies have interrogated the role of heterozygous variants in these genes but mainly focused on rare (minor allele frequency [MAF] <1%) damaging variants or established mutations. Here, we assessed heterozygous private PRKN, PARK7 and PINK1 variants in PD risk in four large-scale PD case-control...

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Literature Corpus work: 06b4aaf0-1d44-57c4-b423-c24309622139
DOI: 10.1101/2022.02.18.22269402

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