Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.N69_A70ins4
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HBA1

NM_000558.5:p.N69_A70ins4

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

Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity.

Brunner-Agten S et al.

Hemoglobin, 2017

Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example.

Wajcman H et al.

Hemoglobin, 0

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