Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.E414K
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MYOC

NM_000261.2:p.E414K

Associated Papers

Effect of Myocilin E414K Variant on the Pathogenesis of Primary Open-Angle Glaucoma.

Awan M et al.

Cureus, 2025

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

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

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Xie M et al.

Nature Medicine, 2014

25326804 (PubMed )
Supplement: NIHMS630249-supplement-7.xlsx › supplementaryTable3b.txt

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

Huang X et al.

Investigative Ophthalmology & Visual Science, 2014

TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma.

Pang CP et al.

Investigative Ophthalmology & Visual Science, 2002

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Pang CP et al.

Human Mutation, 2002

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."