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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBB

Variant:p.Q132delFs

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HBB

NM_000518.5:p.Q132delFs

hg38:chr11:5225645 TC>T

Associated Papers

Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.

Shchemeleva E et al.

Clinical Genetics, 2025

39143497 (PubMed )

Supplement: supplement_1.docx

Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.

Demidova E et al.

Hemoglobin, 2023

37194736 (PubMed )

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