Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K140Q
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HBA2

NM_000517.6:p.K140Q

Associated Papers

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

Zhuang J et al.

Bmc Medical Genomics, 2024

Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.

Zhuang J et al.

Molecular Genetics & Genomic Medicine, 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-HBA2

Identification of a novel hemoglobin variant Hb Jilin [α139(HC1)Lys>Gln; HBA2:C.418 A>C] in a Chinese family.

Xu A et al.

International Journal of Laboratory Hematology, 2019

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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."