Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.L54Q
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OPTN

NM_001008212.2:p.L54Q

Associated Papers

Critical role of mitochondrial ubiquitination and the OPTN-ATG9A axis in mitophagy.

Yamano K et al.

The Journal of Cell Biology, 2020

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins.

Li F et al.

Nature Communications, 2016

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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."