Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.V498_E499insC
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MFRP

NM_031433.4:p.V498_E499insC

Associated Papers

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

Woodard DR et al.

Advances in Experimental Medicine and Biology, 2025

Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.

Mora-Roldan GA et al.

Stem Cell Research, 2024

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

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.

Collin GB et al.

Cells, 2020

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

Chekuri A et al.

Human Gene Therapy, 2019

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

Wasmann RA et al.

Acta Ophthalmologica, 2014

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Ritter M et al.

The British Journal of Ophthalmology, 2013

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M et al.

Clinical Genetics, 2007

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

Ayala-Ramirez R et al.

Molecular Vision, 2006

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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."