Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D478A
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MYOC

NM_000261.2:p.D478A

Associated Papers

Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis.

Saccuzzo EG et al.

Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 2022

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."