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
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.
Tang J et al.
Genes, 2022
36553485 (PubMed )
Supplement: genes-13-02218-s001.zip › Supplemental_tables.xlsx › S2
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
Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.
Moon S et al.
International Journal of Ophthalmology, 2020
A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.
Yao YH et al.
International Journal of Ophthalmology, 2018
Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.
Huang X et al.
Investigative Ophthalmology & Visual Science, 2014
Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.
Li X et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
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