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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF6

Variant:p.D184H

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PRPF6

NM_012469.4:p.D184H

hg38:chr20:63995027 G>C

Associated Papers

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

Maxwell DW et al.

Biochemical Society Transactions, 2021

34060618 (PubMed )

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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."