Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.P45delFs
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HBA2

NM_000517.6:p.P45delFs

Associated Papers

HBA2: C.4delG: A Novel Frameshift Mutation Causing α+-Thalassemia Found in a Chinese Family.

Li W et al.

Hemoglobin, 2025

Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.

Wan Y et al.

Journal of Clinical Laboratory Analysis, 2024

39317177 (PubMed )
Supplement: JCLA-38-e25104-s001.xlsx › Mutations

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

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Hu P et al.

Npj Genomic Medicine, 2022

35079019 (PubMed )
Supplement: 41525_2021_280_MOESM1_ESM.pdf

α-thalassemia trait caused by frameshift mutations in exon 2 of the α2-globin gene: HBA2:c.131delT and HBA2:c.143delA.

Finlayson J et al.

Hemoglobin, 2012

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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."