Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A14P
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HBA1

NM_000558.5:p.A14P

Associated Papers

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.

Kattamis A et al.

Hemoglobin, 2015

Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.

Farashi S et al.

Hemoglobin, 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."