Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T455K
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MYOC

NM_000261.2:p.T455K

Associated Papers

Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay.

Youngblood HA et al.

Experimental Eye Research, 2025

Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay.

Youngblood HA et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.

Moon S et al.

International Journal of Ophthalmology, 2020

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

Yao YH et al.

International Journal of Ophthalmology, 2018

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.

Yang Y et al.

Gene, 2015

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.

Wang F et al.

International Journal of Molecular Medicine, 2015

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Zhao X et al.

Molecular Vision, 2010

[A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family].

Tian Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

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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."