Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.V34_Y36del0
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HBB

NM_000518.5:p.V34_Y36del0

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-Full_dataset

Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.

Scheps KG et al.

European Journal of Haematology, 2018

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."