Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.R329G
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OPTN

NM_001008212.2:p.R329G

Associated Papers

Paucity of optineurin gene variants in Indian juvenile open-angle glaucoma patients.

Yadav M et al.

Indian Journal of Ophthalmology, 2025

Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.

Xiao Y et al.

Journal of Medical Genetics, 2025

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

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.

Huang C et al.

Scientific Reports, 2018

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."