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Article

Intermediate C9orf72 alleles in neurological disorders: does size really matter?

Journal of medical genetics - 1 Sept 2017

Ng Adeline S L, Tan Eng-King

Abstract excerpt

C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Sizes of <20 hexanucleotide repeats are observed in controls, while up to thousands associate with disease. Intermediate C9orf72 repeat lengths, however, remain uncertain. We systematically reviewed the role of intermediate C9orf72 alleles in C9orf72-related neurological...

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Identifiers

PMID: 28689190
DOI: 10.1136/jmedgenet-2017-104752
PMCID: PMC5574395

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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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