Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H3delFs
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HBB

NM_000518.5:p.H3delFs

Associated Papers

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

Phenotypic evaluations of -223 T>C (HBB:c.-223T>C) nucleotide substitution in the promoter region of β-globin gene.

Giambona A et al.

Blood Cells, Molecules & Diseases, 2015

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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."