Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P125_P126insFs
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HBB

NM_000518.5:p.P125_P126insFs

Associated Papers

Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.

Aziz NA et al.

Medicine, 2025

Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay.

Rawa K et al.

Bmc Medical Genetics, 2017

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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."