Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E28K
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HBA2

NM_000517.6:p.E28K

Associated Papers

Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins.

Panyasai S et al.

The Libyan Journal of Medicine, 2024

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

39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.

Tang XW et al.

Annals of Human 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

Detection of hemoglobin H disease by long molecule sequencing.

Li Y et al.

Journal of Clinical Laboratory Analysis, 2022

[Gene diagnosis and carrier detection of hemophilia B by using genomic amplification with transcripts sequencing].

Liu J et al.

Zhonghua Yi Xue Za Zhi, 1995

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.

Xian J et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

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