Varaico: Literature-Extracted Genetic Variants

Gene:ATG16L1
Variant:p.K163M
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ATG16L1

NM_030803.7:p.K163M

Associated Papers

Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia.

Renaud L et al.

Acta Neuropathologica Communications, 2019

ATG5 cancer mutations and alternative mRNA splicing reveal a conjugation switch that regulates ATG12-ATG5-ATG16L1 complex assembly and autophagy.

Wible DJ et al.

Cell Discovery, 2019

31636955 (PubMed )
Supplement: 41421_2019_110_MOESM2_ESM.pdf
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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."