Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.G434S
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MYOC

NM_000261.2:p.G434S

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

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

A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.

Zadoo S et al.

Investigative Ophthalmology & Visual Science, 2016

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Michels-Rautenstrauss K et al.

Human Mutation, 2002

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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."