Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.R2310S
Back to variants list

PRPF8

NM_006445.4:p.R2310S

Associated Papers

A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.

Stanković D et al.

Disease Models & Mechanisms, 2020

Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.

Wu Z et al.

Current Molecular Medicine, 2018

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.

Carrigan M et al.

Scientific Reports, 2016

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

Maubaret CG et al.

Investigative Ophthalmology & Visual Science, 2011

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Towns KV et al.

Human Mutation, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."