Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2
Variant:p.E322K
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ATXN2

NM_001372574.1:p.E322K

Associated Papers

Molecular genetics of primary open-angle glaucoma.

Yadav M et al.

Indian Journal of Ophthalmology, 2023

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

Feng SM et al.

Annals of Clinical and Translational Neurology, 2019

31838784 (PubMed )
Supplement: ACN3-6-2377-s001.docx

Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.

Toth RP et al.

Frontiers in Immunology, 2018

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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."