Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L282R
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ACE

NM_000789.4:p.L282R

Associated Papers

Novel Association of the Presenilin-1 (Leu282Arg) Mutation with Isolated Spastic Paraparesis: Case Presentation and Review of Current Evidence.

De la Sen-Domínguez M et al.

Journal of Clinical Medicine, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."