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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBB

Variant:p.H117ins4

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HBB

NM_000518.5:p.H117ins4

hg38:chr11:5225693 G>GGGGCCAGCACAC

Associated Papers

First Report of a Coincidental Discovery of Hb Antibes-Juan-Les-Pins (HBB: c.349_350insGTGTGCTGGCCC) in a Greek Woman.

Theodoridou S et al.

Hemoglobin, 2020

33267629 (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."