Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R289_R293delFs
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PRPF31

NM_015629.4:p.R289_R293delFs

Associated Papers

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P et al.

Plos Genetics, 2021

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

Wheway G et al.

Experimental Eye Research, 2020

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Zhang Q et al.

Scientific Reports, 2016

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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."