Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.R32K
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HBA2

NM_000517.6:p.R32K

Associated Papers

High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.

Zhang J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.

Qin D et al.

Annals of Medicine, 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

Phenotypic Analysis of the HBA2: C.95 G > A Mutation in China.

Liang JL et al.

Hemoglobin, 2024

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

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

Feng J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

One-step genotyping of α-thalassaemia by multiplex symmetric PCR melting curve.

Qin J et al.

Journal of Clinical Pathology, 2023

Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.

Xi H et al.

Biomedical and Environmental Sciences : Bes, 2023

36861191 (PubMed )
Supplement: 57c281a1-1bae-4b7c-a121-79133799d66b.pdf

The gene spectrum of thalassemia in Yangjiang of western Guangdong Province.

Liang HF et al.

Frontiers in Genetics, 2023

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

A Nested Asymmetric PCR Melting Curve Assay for One-Step Genotyping of Nondeletional α-Thalassemia Mutations.

Qin J et al.

The Journal of Molecular Diagnostics : Jmd, 2020

The Hb H disease genotypes in Southern China.

Fang J et al.

Hemoglobin, 2014

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."