Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E7K
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HBD

NM_000519.4:p.E7K

Associated Papers

Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand.

Prajantasen T et al.

Genetic Testing and Molecular Biomarkers, 2021

Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region.

Ghedira ES et al.

Haematologica, 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."