Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.E2331G
Back to variants list

PRPF8

NM_006445.4:p.E2331G

Associated Papers

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

Maxwell DW et al.

Biochemical Society Transactions, 2021

Variants in the PRPF8 Gene are Associated with Glaucoma.

Micheal S et al.

Molecular Neurobiology, 2018

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Audo I et al.

Orphanet Journal of Rare Diseases, 2012

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."