Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.D329A
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SQSTM1

NM_003900.5:p.D329A

Associated Papers

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Souza PVS et al.

Journal of Inherited Metabolic Disease, 2021

Regulated proteolysis of p62/SQSTM1 enables differential control of autophagy and nutrient sensing.

Sanchez-Garrido J et al.

Science Signaling, 2018

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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."