Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.G253R
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PRPF31

NM_015629.4:p.G253R

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort

Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus.

Chen Z et al.

Human Mutation, 2022

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Whelan L et al.

Genes, 2020

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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."