Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T448P
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MYOC

NM_000261.2:p.T448P

Associated Papers

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1

Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.

Xie JJ et al.

Ophthalmic Genetics, 2022

35014583 (PubMed )
Supplement: supplement_1.pdf

A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients.

Hamanaka T et al.

Investigative Ophthalmology & Visual Science, 2017

Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Stothert AR et al.

Experimental Eye Research, 2016

Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

Mengkegale M et al.

Molecular Vision, 2008

SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.

Funayama T et al.

Investigative Ophthalmology & Visual Science, 2006

[Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].

Yasuda N et al.

Nippon Ganka Gakkai Zasshi, 2006

Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.

Ishikawa K et al.

Journal of Glaucoma, 2004

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

[Study on the gene mutation of TIGR in primary open angle glaucoma, their relatives and normal controls in Chongqing].

Li ZM et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.

Fingert JH et al.

Investigative Ophthalmology & Visual Science, 2001

Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.

Yokoyama A et al.

Japanese Journal 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."