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
Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma.
Shiga Y et al.
Genetics in Medicine Open, 2024
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
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R et al.
Orphanet Journal of Rare Diseases, 2020
32041641 (PubMed )
Supplement: 13023_2020_1317_MOESM1_ESM.pdf
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Comprehensive analysis of myocilin variants in east Indian POAG patients.
Banerjee D et al.
Molecular Vision, 2012
Myocilin variants in Indian patients with open-angle glaucoma.
Bhattacharjee A et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2007
Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.
Izumi K et al.
Ophthalmic Research, 0
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