Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.E2331*
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PRPF8

NM_006445.4:p.E2331*

Associated Papers

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

Maxwell DW et al.

Biochemical Society Transactions, 2021

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.

Escher P et al.

Ophthalmic Genetics, 0

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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."