Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R342K
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MYOC

NM_000261.2:p.R342K

Associated Papers

Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.

Asiamah R et al.

Ophthalmic Genetics, 2025

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

Sazhnyev Y et al.

Genes, 2024

38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1

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

Cystatin a, a potential common link for mutant myocilin causative glaucoma.

Kennedy KD et al.

Plos One, 2012

Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.

Carbone MA et al.

Plos One, 2009

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.

Challa P et al.

Journal of Glaucoma, 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."