Varaico: Literature-Extracted Genetic Variants

Gene:PRPF6
Variant:p.D184G
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PRPF6

NM_012469.4:p.D184G

Associated Papers

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.

Liang Y et al.

International Journal of Molecular Sciences, 2022

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

Maxwell DW et al.

Biochemical Society Transactions, 2021

The Role of the U5 snRNP in Genetic Disorders and Cancer.

Wood KA et al.

Frontiers in Genetics, 2021

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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."