Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.G58delFs
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MFRP

NM_031433.4:p.G58delFs

Associated Papers

Membrane frizzled-related protein: a comprehensive analysis of genetic characteristics, phenotypic manifestations and impact on retinal microvasculature.

Simsek M et al.

Ophthalmic Genetics, 2025

MFRP in Early Onset Retinal Degeneration: Clinical and Molecular Perspectives.

Woodard DR et al.

Advances in Experimental Medicine and Biology, 2025

The Role of Microglia in Inherited Retinal Diseases.

Kumari A et al.

Advances in Experimental Medicine and Biology, 2023

Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.

Kumari A et al.

Scientific Reports, 2022

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.

Gogna N et al.

International Journal of Molecular Sciences, 2022

A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family.

Ren X et al.

Frontiers in Medicine, 2022

Myelin regulatory factor deficiency is associated with the retinal photoreceptor defects in mice.

Yu X et al.

Visual Neuroscience, 2021

Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.

Koli S et al.

Plos Genetics, 2021

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.

Cross SH et al.

Investigative Ophthalmology & Visual Science, 2019

Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.

Chekuri A et al.

Human Gene Therapy, 2019

Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.

Dalvi S et al.

Advances in Experimental Medicine and Biology, 2019

Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

Carricondo PC et al.

Journal of Ophthalmology, 2018

Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages.

Collery RF et al.

Investigative Ophthalmology & Visual Science, 2016

Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.

Dinculescu A et al.

Human Gene Therapy, 2012

174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.

Fogerty J et al.

Investigative Ophthalmology & Visual Science, 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."