Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.R449G
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PRPF3

NM_004698.4:p.R449G

Associated Papers

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Quinodoz M et al.

Nature Genetics, 2026

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Quinodoz M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

Maxwell DW et al.

Biochemical Society Transactions, 2021

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.

Zhong Z et al.

Scientific Reports, 2016

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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."