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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RS1

Variant:p.K100delFs

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RS1

NM_000330.4:p.K100delFs

hg38:chrX:18647217 CT>C

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."