Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.*494E
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EFEMP1

NM_001039348.3:p.*494E

Associated Papers

Large-Scaled Proteomics Analysis for Glaucoma: Integrated Genetics, Multi-Omics, UK Biobank and Therapeutic Analysis.

Xu J et al.

Investigative Ophthalmology & Visual Science, 2026

A review of the role of EFEMP1 in ophthalmic disease.

Wood AJ et al.

Ophthalmic Genetics, 2025

EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.

Collantes ERA et al.

Human Mutation, 2022

Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.

Liu T et al.

Molecular Vision, 2020

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).

Young BP et al.

Ophthalmology. Glaucoma, 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."