Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R2021W
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SPG11

NM_025137.4:p.R2021W

Associated Papers

Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1.

Pierga A et al.

Plos Biology, 2023

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.

Branchu J et al.

Neurobiology of Disease, 2017

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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."