Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E81K
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OPTN

NM_001008212.2:p.E81K

Associated Papers

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp003.pdf

Significance of optineurin mutations in glaucoma and other diseases.

Minegishi Y et al.

Progress in Retinal and Eye Research, 2016

Comprehensive analysis of myocilin variants in east Indian POAG patients.

Banerjee D et al.

Molecular Vision, 2012

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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."