Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E122K
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HBD

NM_000519.4:p.E122K

Associated Papers

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis.

Li Y et al.

Frontiers in Genetics, 2025

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.

Xu A et al.

International Journal of Laboratory Hematology, 2023

A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)].

Yan JM et al.

Hemoglobin, 2016

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