Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.N450D
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MYOC

NM_000261.2:p.N450D

Associated Papers

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

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

Scelsi HF et al.

Human Mutation, 2021

Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Stothert AR et al.

Experimental Eye Research, 2016

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Zhao X et al.

Molecular Vision, 2010

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Michels-Rautenstrauss K et al.

Human Mutation, 2002

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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."