Article

Analysis of PTRHD1 common and rare variants in European patients with Parkinson’s disease

2020-12-14

Abstract excerpt

Three family studies identified three different variants in the peptidyl-tRNA hydrolase domain containing 1 gene ( PTRHD1 ) in patients affected by syndromic parkinsonism. In the current study, our objective was to investigate whether PTRHD1 variants are associated with Parkinson’s disease (PD) risk and age at onset (AAO). To evaluate the association between PTRHD1 and PD risk, we analyzed whole genome sequencing...

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Literature Corpus work: c19ed4d7-e79d-5428-8313-07a17757f7aa
DOI: 10.1101/2020.12.11.20243402

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