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Article

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

PloS one - 1 Jan 2021

Sebate Boiketlo, Cuttler Katelyn, Cloete Ruben, Britz Marcell, Christoffels Alan, Williams Monique, Carr Jonathan, Bardien Soraya

Abstract excerpt

Parkinson's disease (PD) is a neurodegenerative disorder exhibiting Mendelian inheritance in some families. Next-generation sequencing approaches, including whole exome sequencing (WES), have revolutionized the field of Mendelian disorders and have identified a number of PD genes. We recruited a South African family with autosomal dominant PD and used WES to identify a possible pathogenic mutation. After...

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Identifiers

PMID: 33770142
DOI: 10.1371/journal.pone.0249324
PMCID: PMC7997022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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