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C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity

C9orf72 hexanucleotide repeat expansion is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual risk outside the hexanucleotide repeat expansion, but the evidence is conflicting. Here, we first compared 683 unrelated amyotroph...

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Principais autores: Karri Kaivola, Matti Pirinen, Hannu Laaksovirta, Lilja Jansson, Osma Rautila, Jyrki Launes, Laura Hokkanen, Jari Lahti, Johan G. Eriksson, Timo E. Strandberg, FinnGen, Pentti J. Tienari
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2023-03-01
Serier:Frontiers in Genetics
Fag:
C9orf72
ALS
intermediate allele
survival
case-control analysis
biobank
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2023.1087098/full
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