Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.K557R
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OPTN

NM_001008212.2:p.K557R

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › Novel_variants_

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Genome-wide siRNA screening reveals that DCAF4-mediated ubiquitination of optineurin stimulates autophagic degradation of Cu,Zn-superoxide dismutase.

Homma K et al.

The Journal of Biological Chemistry, 2020

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

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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."