Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.R143W
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MBP

NM_001025101.2:p.R143W

Associated Papers

Structural basis for misfolding in myocilin-associated glaucoma.

Donegan RK et al.

Human Molecular Genetics, 2015

The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and peptide sequence.

Hill SE et al.

Journal of Molecular Biology, 2014

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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."