Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E104K
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PRPF31

NM_015629.4:p.E104K

Associated Papers

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

Maxwell DW et al.

Biochemical Society Transactions, 2021

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Yoon CK et al.

Bmc Genomics, 2015

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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."