Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.D95_K96ins5
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HBB

NM_000518.5:p.D95_K96ins5

Associated Papers

De novo HBB frameshift mutation in a patient with dominant β-thalassemia major.

Zhou X et al.

International Journal of Laboratory Hematology, 2022

Hb Fairfax [HBB:c.285_286insGAGCTGCACTGTGAC] in a Brazilian patient with severe hemolytic anemia-identification and functional study.

Jorge SE et al.

Annals of Hematology, 2019

First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain.

Farashi S et al.

Hemoglobin, 2016

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

Croteau SE et al.

Pediatric Blood & Cancer, 2013

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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."