Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.G237_P245insFs
Back to variants list

PRPF31

NM_015629.4:p.G237_P245insFs

Associated Papers

The RNA content of extracellular vesicles from gene-edited PRPF31 +/- hiPSC-RPE show potential as biomarkers of retinal degeneration.

Getachew H et al.

Molecular Therapy. Methods & Clinical Development, 2025

Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.

Lee YJ et al.

Stem Cell Reviews and Reports, 2025

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Liang Y et al.

Stem Cell Research & Therapy, 2023

Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue.

Rodrigues A et al.

Npj Regenerative Medicine, 2022

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Rose AM et al.

Scientific Reports, 2016

26781568 (PubMed )
Supplement: srep19450-s1.pdf

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.

Audo I et al.

Bmc Medical Genetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."