Varaico: Literature-Extracted Genetic Variants

Gene:EPG5
Variant:p.R31R
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EPG5

NM_020964.3:p.R31R

Associated Papers

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

Thornton BT et al.

Biorxiv : the Preprint Server for Biology, 2025

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Deneubourg C et al.

Autophagy, 2022

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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."