Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.T258fs
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PRPF31

NM_015629.4:p.T258fs

Associated Papers

Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.

Hughes MJ et al.

Investigative Ophthalmology & Visual Science, 2025

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11.

Roshandel D et al.

Genes, 2021

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

Wheway G et al.

Experimental Eye Research, 2020

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 2018

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 2017

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L et al.

Human Genetics, 2015

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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."