Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.D384H
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MYOC

NM_000261.2:p.D384H

Associated Papers

Exploring the Genetic Landscape of Childhood Glaucoma.

Pan Y et al.

Children (basel, Switzerland), 2024

Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.

Ng TK et al.

Biomolecules, 2023

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.

Huang C et al.

Scientific Reports, 2018

Juvenile-onset open-angle glaucoma - A clinical and genetic update.

Selvan H et al.

Survey of Ophthalmology, 0

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."