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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC3A2

Variant:p.A172insFs

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SLC3A2

NM_001013251.3:p.A172insFs

hg38:chr11:62881982 G>GC

Associated Papers

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

Tedesco B et al.

Autophagy, 2023

36854646 (PubMed )

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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."