Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E206*
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PRPF31

NM_015629.4:p.E206*

Associated Papers

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

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

Wheway G et al.

Experimental Eye Research, 2020

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F et al.

Human Genetics, 2014

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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."