Varaico: Literature-Extracted Genetic Variants

Gene:ATG3
Variant:p.L307_R308insFs
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ATG3

NM_001278712.2:p.L307_R308insFs

Associated Papers

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Bras J et al.

Neurobiology of Aging, 2016

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

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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."