Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.D127N
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HBA2

NM_000517.6:p.D127N

Associated Papers

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-HBA2

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

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D et al.

Hemoglobin, 2016

Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis.

Ip KL 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."