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Article

Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk.

Journal of medical genetics - 1 Sept 2020

Bobbili Dheeraj Reddy, Banda Peter, Krüger Rejko, May Patrick

Abstract excerpt

BACKGROUND: Parkinson's disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple variants associated with sporadic PD were discovered via association studies. METHODS: We studied the whole-exome sequencing data of 340 PD cases and 146 ethnically matched controls from the Parkinson's Progression...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32054687
DOI: 10.1136/jmedgenet-2019-106316
PMCID: PMC7476273

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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