Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.A129_A130Fs
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HBB

NM_000518.5:p.A129_A130Fs

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

mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)].

Cardiero G et al.

Biomedicines, 2021

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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."