Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K83*
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HBB

NM_000518.5:p.K83*

Associated Papers

Nonsense mutation of β-globin gene at codon 82 (AAG→TAG) or HBB:C247 A→T with polymorphism: cause of thalassemia intermedia?

Kumar R et al.

International Journal of Laboratory Hematology, 2011

A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major.

Angalena R et al.

International Journal of Laboratory Hematology, 2010

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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."