Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.Q281_L282Splc
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OPA1

NM_130837.3:p.Q281_L282Splc

Associated Papers

Association between optic atrophy 1 polymorphisms and primary open angle glaucoma risk: Based on a meta-analysis.

Liu YF et al.

European Journal of Ophthalmology, 2024

Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis.

Pan L et al.

Genes, 2024

38674425 (PubMed )
Supplement: genes-15-00491-s001.zip › Supplementary_figures.pdf

The Role of Mitophagy in Glaucomatous Neurodegeneration.

Stavropoulos D et al.

Cells, 2023

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.

Sitarz KS et al.

Multiple Sclerosis (houndmills, Basingstoke, England), 2012

Association of OPA1 polymorphisms with NTG and HTG: a meta-analysis.

Guo Y et al.

Plos One, 2012

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P et al.

Progress in Retinal and Eye Research, 2011

OPA1 increases the risk of normal but not high tension glaucoma.

Yu-Wai-Man P et al.

Journal of Medical Genetics, 2010

The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma.

Mabuchi F et al.

American Journal of Ophthalmology, 2007

Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea.

Woo SJ et al.

Journal of Glaucoma, 2004

Molecular genetic basis of primary inherited optic neuropathies.

Votruba M

Eye (london, England), 2004

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

Delettre C et al.

Bmc Genetics, 2003

A review of primary hereditary optic neuropathies.

Votruba M et al.

Journal of Inherited Metabolic Disease, 2003

Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis.

Buono LM et al.

Current Opinion in Ophthalmology, 2002

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Aung T et al.

Human Genetics, 2002

Polymorphism Analysis of GSTM1 and OPA1 Genes in Greek Patients with Primary Open-angle Glaucoma.

Lavaris A et al.

In Vivo (athens, Greece), 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."