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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBB

Variant:p.L106_N109delins

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HBB

NM_000518.5:p.L106_N109delins

hg38:chr11:5225719 CCCAGGAG>ACAGATGGCAC

Associated Papers

Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)].

Croteau SE et al.

Pediatric Blood & Cancer, 2013

23776097 (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."