Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.K73*
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PRPF31

NM_015629.4:p.K73*

Associated Papers

The role of splicing factors in retinitis pigmentosa: links to cilia.

Maxwell DW et al.

Biochemical Society Transactions, 2021

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

Wheway G et al.

Experimental Eye Research, 2020

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

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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."