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Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants

2 Nov 2022

Abstract excerpt

Abstract Increasing genetic evidence supports the hypothesis that variants in the annexin A11 gene (ANXA11) contribute to amyotrophic lateral sclerosis pathogenesis. Therefore, we studied the clinical aspects of sporadic amyotrophic lateral sclerosis patients carrying ANXA11 variants. We also implemented functional experiments to verify the pathogenicity of the hotspot variants associated with amyotrophic lateral...

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PMID: 36458208
DOI: 10.1093/braincomms/fcac299

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