Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y347Y
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MYOC

NM_000261.2:p.Y347Y

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

MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal.

Silva F et al.

Acta Medica Portuguesa, 2021

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.

Svidnicki PV et al.

Ophthalmic Genetics, 2018

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Main_File.pdf

Comprehensive analysis of myocilin variants in east Indian POAG patients.

Banerjee D et al.

Molecular Vision, 2012

Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.

Mendoza-Reinoso V et al.

Molecular Vision, 2012

Myocilin mutations in black South Africans with POAG.

Whigham BT et al.

Molecular Vision, 2011

Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.

Pandaranayaka PJ et al.

Molecular Vision, 2010

MYOC and FOXC1 gene analysis in primary congenital glaucoma.

Tanwar M et al.

Molecular Vision, 2010

Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Jia LY et al.

Molecular Vision, 2009

Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.

Rose R et al.

Molecular Vision, 2007

Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.

Melki R et al.

Human Mutation, 2003

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Michels-Rautenstrauss K et al.

Human Mutation, 2002

Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

Cobb CJ et al.

The British Journal of Ophthalmology, 2002

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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."