Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.L283_P285delFs
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PRPF31

NM_015629.4:p.L283_P285delFs

Associated Papers

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

Jiang Y et al.

Biomolecules, 2025

Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.

Cao L et al.

Molecular Genetics & Genomic Medicine, 2020

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.

Xu F et al.

Molecular Vision, 2012

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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."