Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R117L
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HBD

NM_000519.4:p.R117L

Associated Papers

Two Novel δ-Globin Chain Variants Identified in the Chinese Population.

Su Z et al.

Hemoglobin, 2026

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

Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).

Waye JS et al.

Hemoglobin, 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."