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Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

12 Jan 2022

Abstract excerpt

Background and Objectives To perform the first screen of 44 amyotrophic lateral sclerosis (ALS) genes in a cohort of African genetic ancestry individuals with ALS using whole-genome sequencing (WGS) data. Methods One hundred three consecutive cases with probable/definite ALS (using the revised El Escorial criteria), and self-categorized as African genetic ancestry, underwent WGS using various Illumina platforms....

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PMID: 35047667
DOI: 10.1212/nxg.0000000000000654

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