Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D478N
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MYOC

NM_000261.2:p.D478N

Associated Papers

Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.

Ng TK et al.

Biomolecules, 2023

Myocilin misfolding and glaucoma: A 20-year update.

Saccuzzo EG et al.

Progress in Retinal and Eye Research, 2023

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

Lieberman RL et al.

Accounts of Chemical Research, 2021

Stable calcium-free myocilin olfactomedin domain variants reveal challenges in differentiating between benign and glaucoma-causing mutations.

Hill SE et al.

The Journal of Biological Chemistry, 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."