Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.D220fs
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OPTN

NM_001008212.2:p.D220fs

Associated Papers

Fundamental roles of the Optineurin gene in the molecular pathology of Amyotrophic Lateral Sclerosis.

Zhao S et al.

Frontiers in Neuroscience, 2023

Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.

Feng SM et al.

Annals of Clinical and Translational Neurology, 2019

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.

Markovinovic A et al.

Progress in Neurobiology, 2017

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.

Beeldman E et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015

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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."