Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R296C
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MYOC

NM_000261.2:p.R296C

Associated Papers

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

Sazhnyev Y et al.

Genes, 2024

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

Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.

Ennis S et al.

Eye (london, England), 2010

Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.

Li X et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 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."