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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBD

Variant:p.E122V

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HBD

NM_000519.4:p.E122V

hg38:chr11:5233043 T>A

Associated Papers

A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)].

Yan JM et al.

Hemoglobin, 2016

27117573 (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."