Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.M117I
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GTF2H1

NM_005316.4:p.M117I

Associated Papers

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Davidson JM et al.

Neurobiology of Disease, 2022

DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity.

Kok JR et al.

Cellular and Molecular Life Sciences : Cmls, 2021

p62/SQSTM1, a Central but Unexploited Target: Advances in Its Physiological/Pathogenic Functions and Small Molecular Modulators.

Chen Y et al.

Journal of Medicinal Chemistry, 2020

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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."