Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.S50delFs
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HBA2

NM_000517.6:p.S50delFs

Associated Papers

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

Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.

Shao B 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-Full_dataset

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

Frameshift mutation in the alpha2-globin gene causing alpha+ -thalassemia: codon 49 (-GC).

Eng B et al.

Hemoglobin, 2008

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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."