Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T377R
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MYOC

NM_000261.2:p.T377R

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

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

Exploring the Genetic Landscape of Childhood Glaucoma.

Pan Y et al.

Children (basel, Switzerland), 2024

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

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Genetics and Glaucoma: the state of the art.

Tirendi S et al.

Frontiers in Medicine, 2023

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

Xie JJ et al.

Ophthalmic Genetics, 2022

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

Scelsi HF et al.

Human Mutation, 2021

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.

Ansar M et al.

Human Molecular Genetics, 2018

Candidate genes involved in the susceptibility of primary open angle glaucoma.

Kumar S et al.

Gene, 2016

The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family.

Waryah AM et al.

Gene, 2013

Juvenile-onset open-angle glaucoma - A clinical and genetic update.

Selvan H et al.

Survey 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."