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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBD

Variant:p.R31T

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HBD

NM_000519.4:p.R31T

hg38:chr11:5234342 C>G

Associated Papers

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 2024

38007159 (PubMed )

Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited

Kattamis C et al.

Biology, 2022

35336809 (PubMed )

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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."