Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.L334V
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MYOC

NM_000261.2:p.L334V

Associated Papers

Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Scelsi HF et al.

Disease Models & Mechanisms, 2023

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Scelsi HF et al.

Human Mutation, 2021

Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma.

Kasahara N et al.

Ophthalmic Genetics, 2011

Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Jia LY et al.

Molecular Vision, 2009

Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Lopez-Martinez F et al.

Molecular Vision, 2007

Gene mapping for primary open angle glaucoma.

Fan BJ et al.

Clinical Biochemistry, 2006

Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma.

Ozgül RK et al.

Molecular Vision, 2005

Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.

Fan BJ et al.

Journal of Glaucoma, 2004

Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.

Fuse N et al.

Journal of Glaucoma, 2004

[Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients].

Fan BJ et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time.

Polansky JR et al.

Clinical Genetics, 2003

Single-nucleotide polymorphisms and glaucoma severity.

Bunce C et al.

American Journal of Human Genetics, 2003

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.

Colomb E et al.

Clinical Genetics, 2001

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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."