Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.C25R
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MYOC

NM_000261.2:p.C25R

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

Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Zhou B et al.

Frontiers in Genetics, 2022

Prevalence of MYOC risk variants for glaucoma in different populations.

Liuska PJ et al.

Acta Ophthalmologica, 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

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

Stothert AR et al.

Experimental Eye Research, 2016

Glaucoma-associated myocilin: a better understanding but much more to learn.

Resch ZT et al.

Experimental Eye Research, 2009

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.

Bruttini M et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2003

Adult-onset primary glaucoma and molecular genetics: a review.

Frezzotti R et al.

European Journal of Ophthalmology, 0

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