Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.V127delFs
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HBB

NM_000518.5:p.V127delFs

Associated Papers

Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country.

Coskun C et al.

Hemoglobin, 2024

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

[Hemoglobin in thalassemia; minimal thalassemia and Mediterranean anemia].

ROCHE J et al.

Revue D'hematologie, 1953

A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child.

Gürlek-Gökçebay D et al.

Hemoglobin, 0

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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."