Varaico: Literature-Extracted Genetic Variants

Gene:SPART
Variant:p.P277H
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SPART

NM_015087.5:p.P277H

Associated Papers

Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.

Edwards TL et al.

The Biochemical Journal, 2009

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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."