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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF31

Variant:p.M65insFs

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PRPF31

NM_015629.4:p.M65insFs

hg38:chr19:54118587 G>GA

Associated Papers

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

Rio Frio T et al.

The Journal of Clinical Investigation, 2008

18317597 (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."