Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E382_I383Splc
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PRPF31

NM_015629.4:p.E382_I383Splc

Associated Papers

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.

Jiang Y et al.

Biomolecules, 2025

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table3.XLSX › Sheet1

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.

Ali-Nasser T et al.

Molecular Vision, 2022

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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."