Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T419A
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MYOC

NM_000261.2:p.T419A

Associated Papers

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

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

O'Gorman L et al.

Scientific Reports, 2019

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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."