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Article

Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature.

International journal of medical sciences - 1 Jan 2021

Xu Xingfeng, Su Yan, Zou Zhenyou, Zhou Yali, Yan Jianguo

Abstract excerpt

Chromosome 9 open reading frame 72 (C9ORF72) encodes a 54-kDa protein with unknown function that is expressed at high levels in the central nervous system. The C9ORF72 hexanucleotide amplification is one of the most recently discovered repetitive amplification diseases related to neurodegeneration. Its association with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) spectrum diseases has been...

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Identifiers

PMID: 33390807
DOI: 10.7150/ijms.53550
PMCID: PMC7757155

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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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