Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.A121E
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HBA2

NM_000517.6:p.A121E

Associated Papers

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

Spectrum of β-Thalassemia and Other Hemoglobinopathies in the Saurashtra Region of Gujarat, India: Analysis of a Large Population Screening Program.

Vachhani NA et al.

Hemoglobin, 2022

Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1: c.-24C>G (or HBA2) Variants.

Khalil MSM et al.

Hemoglobin, 2020

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Khalil MSM et al.

Hemoglobin, 2020

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

Horri-Naceur A et al.

Hemoglobin, 2020

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D et al.

Hemoglobin, 2016

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

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