Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K62*
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HBA2

NM_000517.6:p.K62*

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

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

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

Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.

Jiang F 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-HBA2

First Report of Nondeletional Hb H Disease Caused by an α2-Globin Gene Mutation: HBA2: c.184A>T.

Tian Q et al.

Hemoglobin, 2021

Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.

Peng Q et al.

Journal of Clinical Laboratory Analysis, 2021

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.

Zhang H et al.

Journal of Clinical Laboratory Analysis, 2019

A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T.

Liang Y et al.

Hemoglobin, 0

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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."