Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.I499S
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MYOC

NM_000261.2:p.I499S

Associated Papers

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

Myocilin misfolding and glaucoma: A 20-year update.

Saccuzzo EG et al.

Progress in Retinal and Eye Research, 2023

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Burdon KP et al.

Human Mutation, 2022

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

Scelsi HF et al.

Human Mutation, 2021

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

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

Fingert JH et al.

Investigative Ophthalmology & Visual Science, 2001

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

Shimizu S et al.

American Journal of Ophthalmology, 2000

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."