Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Y90_R91delFs
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PRPF31

NM_015629.4:p.Y90_R91delFs

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

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

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

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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."