Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E89delFs
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PRPF31

NM_015629.4:p.E89delFs

Associated Papers

Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant.

Zhang D et al.

Stem Cell Research, 2025

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.

McLenachan S et al.

Genes, 2021

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

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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."