Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.T325T
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MYOC

NM_000261.2:p.T325T

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

A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.

Nakahara E et al.

Current Eye Research, 2022

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

Silva F et al.

Acta Medica Portuguesa, 2021

Genetic modifiers of long-term survival in sickle cell anemia.

Wonkam A et al.

Clinical and Translational Medicine, 2020

32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf

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

Svidnicki PV et al.

Ophthalmic Genetics, 2018

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

Contributions of MYOC and CYP1B1 mutations to JOAG.

Bayat B et al.

Molecular Vision, 2008

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

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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."