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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF8

Variant:p.S1588_V1590del3

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PRPF8

NM_006445.4:p.S1588_V1590del3

hg38:chr17:1660445 ATAACAATGC>A

Associated Papers

The qMini assay identifies an overlooked class of splice variants.

Guan B et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

38076877 (PubMed )

Supplement: media-1.xlsx › TableS3_RPE65

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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."