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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBG1

Variant:p.F42L

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HBG1

NM_000559.3:p.F42L

hg38:chr11:5249559 A>G

Associated Papers

Identification of novel HPFH-like mutations by CRISPR base editing that elevate the expression of fetal hemoglobin.

Ravi NS et al.

Elife, 2022

35147495 (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."