Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.T109N
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HBA2

NM_000517.6:p.T109N

Associated Papers

Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants.

Olivieri M et al.

Annals of Laboratory Medicine, 2025

Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.

Fjeld B et al.

International Journal of Laboratory Hematology, 2023

Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.

Xi H et al.

Biomedical and Environmental Sciences : Bes, 2023

36861191 (PubMed )
Supplement: 57c281a1-1bae-4b7c-a121-79133799d66b.pdf

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-Full_dataset

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

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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."