Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.E352Q
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MYOC

NM_000261.2:p.E352Q

Associated Papers

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

Scelsi HF et al.

Human Mutation, 2021

Molecular Insights into Myocilin and Its Glaucoma-Causing Misfolded Olfactomedin Domain Variants.

Lieberman RL et al.

Accounts of Chemical Research, 2021

Structural basis for misfolding in myocilin-associated glaucoma.

Donegan RK et al.

Human Molecular Genetics, 2015

The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.

Burns JN et al.

Biochemistry, 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."