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Article

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Journal of medical genetics - 1 Nov 2013

Kenna Kevin P, McLaughlin Russell L, Byrne Susan, Elamin Marwa, Heverin Mark, Kenny Elaine M, Cormican Paul, Morris Derek W, Donaghy Colette G, Bradley Daniel G, Hardiman Orla

Abstract excerpt

BACKGROUND: Over 100 genes have been implicated in the aetiology of amyotrophic lateral sclerosis (ALS). A detailed understanding of their independent and cumulative contributions to disease burden may help guide various clinical and research efforts. METHODS: Using targeted high-throughput sequencing, we characterised the variation of 10 Mendelian and 23 low penetrance/tentative ALS genes within a...

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Source

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Identifiers

PMID: 23881933
DOI: 10.1136/jmedgenet-2013-101795
PMCID: PMC3812897

Genes

TARDBP
FUS
ALS2
ANG
OPTN
SETX
SOD1
VAPB
VCP

Variants

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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