Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.L231insFs
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OPTN

NM_001008212.2:p.L231insFs

Associated Papers

Molecular genetics of inherited normal tension glaucoma.

Pan Y et al.

Indian Journal of Ophthalmology, 2024

Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.

Kacem I et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

[Optineurin and mitochondrial dysfunction in neurodegeneration].

D'Urso B et al.

Medecine Sciences : M/s, 2024

Potential roles of the endoplasmic reticulum stress pathway in amyotrophic lateral sclerosis.

Jeon YM et al.

Frontiers in Aging Neuroscience, 2023

Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients.

Caixeta-Umbelino C et al.

Ophthalmic Genetics, 2009

Optineurin and its mutants: molecules associated with some forms of glaucoma.

Chalasani ML et al.

Ophthalmic Research, 2009

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Liu Y et al.

Molecular Vision, 2008

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A et al.

Molecular Vision, 2007

Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.

Jansson M et al.

Ophthalmic Genetics, 2005

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study.

Baird PN et al.

Clinical & Experimental Ophthalmology, 2004

Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients.

Umeda T et al.

Ophthalmic Genetics, 2004

The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.

Tang S et al.

Human Genetics, 2003

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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."