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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SQLE

Variant:p.F20Y

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SQLE

NM_003129.4:p.F20Y

hg38:chr8:124999462 T>A

Associated Papers

Large-Scale CRISPR Screen of LDLR Pathogenic Variants.

Li M et al.

Research (washington, D.c.), 2023

37496633 (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."