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Article

Reduced penetrance of gene variants causing amyotrophic lateral sclerosis

16 Dec 2023

Abstract excerpt

Background Amyotrophic lateral sclerosis overlaps aetiologically and genetically with frontotemporal dementia and occurs in both familial and apparently sporadic forms. The most commonly implicated genes are C9orf72 , SOD1 , TARDBP and FUS . Penetrance of disease-causing variants in these genes is known to be incomplete, but has not been well studied at population level. Objective We sought to determine the...

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PMID: 38123999
DOI: 10.1136/jmg-2023-109580

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