Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G65V
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HBB

NM_000518.5:p.G65V

Associated Papers

A new unstable haemoglobin, Hb Alger, causes a transfusion-dependent anaemia in early childhood.

Bouazizi S et al.

British Journal of Haematology, 2025

Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report.

Jiang H 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

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

Martin G et al.

Hemoglobin, 2021

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

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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."