Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.G509R
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OPTN

NM_001008212.2:p.G509R

Associated Papers

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

Feng SM et al.

Annals of Clinical and Translational Neurology, 2019

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.

Mehta PR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

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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."