Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E117_P120delFs
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HBA2

NM_000517.6:p.E117_P120delFs

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-HBA2

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

Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G]: a novel silent substitution interfering in Hb A1c determination.

Brennan SO et al.

Hemoglobin, 2013

Novel α2 gene deletion (c.349_359 del GAGTTCACCCC) identified in association with the -α3.7 deletion.

Brennan SO et al.

Hemoglobin, 2012

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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."