Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.H59Y
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HBA2

NM_000517.6:p.H59Y

Associated Papers

A Novel Alpha1-Variant (HBA1:c.-35T>C) Complexed With the First Reported Hb M-Saskatoon in the Chinese Population.

Yang Y et al.

Molecular Genetics & Genomic Medicine, 2026

Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.

Ferrer-Benito S et al.

American Journal of Blood Research, 2025

Anesthetic Management of a Patient With Hemoglobin M Disease Undergoing Laparoscopic Uterine Myomectomy: A Case Report.

You L et al.

Journal of Perianesthesia Nursing : Official Journal of the American Society of Perianesthesia Nurses, 2024

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 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

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report.

Shin C et al.

Bmc Pediatrics, 2019

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.

de la Fuente-Gonzalo F et al.

Annals of Hematology, 2019

Molecular basis of α-thalassemia.

Farashi S et al.

Blood Cells, Molecules & Diseases, 2018

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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."