Associated Papers
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
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Scelsi HF et al.
Disease Models & Mechanisms, 2023
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.
Zadoo S et al.
Investigative Ophthalmology & Visual Science, 2016
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
Hewitt AW et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2007
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