Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R105S
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HBD

NM_000519.4:p.R105S

Associated Papers

Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)].

Joly P et al.

Hemoglobin, 2013

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.

De Angioletti M et al.

Human Mutation, 2002

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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."