Varaico: Literature-Extracted Genetic Variants

Gene:FEZF2
Variant:p.Y402H
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FEZF2

NM_018008.4:p.Y402H

Associated Papers

Recent Advances in Proteomics-Based Approaches to Studying Age-Related Macular Degeneration: A Systematic Review.

García-Quintanilla L et al.

International Journal of Molecular Sciences, 2022

Proteomics of Human Retinal Pigment Epithelium (RPE) Cells.

Beranova-Giorgianni S et al.

Proteomes, 2018

Different hereditary contribution of the CFH gene between polypoidal choroidal vasculopathy and age-related macular degeneration in Chinese Han people.

Huang L et al.

Investigative Ophthalmology & Visual Science, 2014

Can genetic associations change with age? CFH and age-related macular degeneration.

Adams MK et al.

Human Molecular Genetics, 2012

Purification and biochemical characterization of functional complement factor H from human plasma fractions.

Brandstätter H et al.

Vox Sanguinis, 2012

Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology.

Jun G et al.

Plos One, 2011

Rapid and sensitive method for detection of Y402, H402, I62, and V62 variants of complement factor H in human plasma samples using mass spectrometry.

Kelly U et al.

Investigative Ophthalmology & Visual Science, 2009

The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms.

Liu J et al.

The British Journal of Ophthalmology, 2009

Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration.

Baird PN et al.

Investigative Ophthalmology & Visual Science, 2006

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