Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L67P
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HBA2

NM_000517.6:p.L67P

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-Full_dataset

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

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

Horri-Naceur A et al.

Hemoglobin, 2020

Point mutations which should not be overlooked in Hb H disease.

Farashi S et al.

Expert Review of Hematology, 2016

Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population.

Farashi S et al.

Hemoglobin, 2016

Molecular Characterization of δ-Thalassemia in Iran.

Kordafshari A et al.

Hemoglobin, 2016

Diagnostic pitfalls of less well recognized HbH disease.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2015

Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient.

Farashi S et al.

Hemoglobin, 2015

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."