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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HLCS

Variant:p.S230R

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HLCS

NM_001352514.2:p.S230R

hg38:chr21:36937196 A>C

Associated Papers

HCS-Splice: A High-Content Screening Method to Advance the Discovery of RNA Splicing-Modulating Therapeutics.

Covello G et al.

Cells, 2023

37566038 (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."