Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.Y453delFs
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MYOC

NM_000261.2:p.Y453delFs

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

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

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

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

Svidnicki PV et al.

Ophthalmic Genetics, 2018

MYOC mutations in black south african patients with primary open-angle glaucoma: genetic testing and cascade screening.

Williams SE et al.

Ophthalmic Genetics, 2015

Myocilin mutations in black South Africans with POAG.

Whigham BT et al.

Molecular Vision, 2011

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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."