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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SQSTM1

Variant:p.E14K

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SQSTM1

NM_003900.5:p.E14K

hg38:chr5:179820976 G>A

Associated Papers

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Rubino E et al.

Neurology, 2012

22972638 (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."