Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R372fs
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PRPF31

NM_015629.4:p.R372fs

Associated Papers

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.

Jiang Y et al.

Biomolecules, 2025

Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing.

Li J et al.

Nucleic Acids Research, 2021

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

Fuster-García C et al.

Genes, 2020

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Wheway G et al.

Experimental Eye Research, 2020

A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.

Zheng Y et al.

International Journal of Ophthalmology, 2018

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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."