Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.P493L
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PRPF3

NM_004698.4:p.P493L

Associated Papers

Emerging roles of spliceosome in cancer and immunity.

Yang H et al.

Protein & Cell, 2022

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.

Zhong Z et al.

Scientific Reports, 2016

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF et al.

Human Molecular Genetics, 2002

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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."