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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF3

Variant:p.N308insFs

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PRPF3

NM_004698.4:p.N308insFs

hg38:chr1:150335128 A>AAGCC

Associated Papers

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

Lee K et al.

American Journal of Ophthalmology, 2015

25910913 (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."