Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.R91*
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MYOC

NM_000261.2:p.R91*

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

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Burdon KP et al.

Human Mutation, 2022

Prevalence of MYOC risk variants for glaucoma in different populations.

Liuska PJ et al.

Acta Ophthalmologica, 2021

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

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

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

Stothert AR et al.

Experimental Eye Research, 2016

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.

Yang Y et al.

Gene, 2015

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.

Wang F et al.

International Journal of Molecular Medicine, 2015

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Huang X et al.

Investigative Ophthalmology & Visual Science, 2014

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Zhao X et al.

Molecular Vision, 2010

Molecular diagnostics of genetic eye diseases.

Fan BJ et al.

Clinical Biochemistry, 2006

Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.

Fan BJ et al.

Journal of Glaucoma, 2004

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

[Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients].

Fan BJ et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Recent advances in molecular genetics of glaucoma.

Ray K et al.

Molecular and Cellular Biochemistry, 2003

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.

Fingert JH et al.

Investigative Ophthalmology & Visual Science, 2001

Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma.

Lam DS et al.

Investigative Ophthalmology & Visual Science, 2000

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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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."