Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.G364S
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MYOC

NM_000261.2:p.G364S

Associated Papers

Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

Fuse N et al.

Japanese Journal of Ophthalmology, 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

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ et al.

Molecular Vision, 2011

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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."