Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.G381fs
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PRPF31

NM_015629.4:p.G381fs

Associated Papers

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

Jiang Y et al.

Biomolecules, 2025

Regional differences in genes and variants causing retinitis pigmentosa in Japan.

Koyanagi Y et al.

Japanese Journal of Ophthalmology, 2021

Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.

Sato T et al.

Acta Ophthalmologica, 2020

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

Wheway G et al.

Experimental Eye Research, 2020

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.

Koyanagi Y et al.

Journal of Medical Genetics, 2019

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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."