Varaico: Literature-Extracted Genetic Variants

Gene:SIRT5
Variant:p.L128V
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SIRT5

NM_012241.5:p.L128V

Associated Papers

Integrative computational simulations and functional assays decode allosteric dysregulation in a pathogenic SIRT6 variant.

Tang H et al.

International Journal of Biological Macromolecules, 2026

Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice.

Yuan T et al.

Iscience, 2024

SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.

Yuan T et al.

Biorxiv : the Preprint Server for Biology, 2023

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