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Article

Oligogenicity, C9orf72 expansion, and variant severity in ALS.

Neurogenetics - 1 Jul 2020

Ross Jay P, Leblond Claire S, Laurent Sandra B, Spiegelman Dan, Dionne-Laporte Alexandre, Camu William, Dupré Nicolas, Dion Patrick A, Rouleau Guy A

Abstract excerpt

"Oligogenic inheritance" is used to describe cases where more than one rare pathogenic variant is observed in the same individual. While multiple variants can alter disease presentation, the necessity of multiple variants to instigate pathogenesis has not been addressed in amyotrophic lateral sclerosis (ALS). We sequenced ALS-associated genes in C9orf72-expansion-positive and negative ALS patients, alongside...

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Identifiers

PMID: 32385536
DOI: 10.1007/s10048-020-00612-7

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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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