Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K17T
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HBA2

NM_000517.6:p.K17T

Associated Papers

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

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.

He S et al.

Frontiers in Pediatrics, 2021

A New α Chain Variant, Hb Heilongjiang (HBA2: c.49A>C), Found During Hb A1c Measurement.

Xu A et al.

Hemoglobin, 2020

Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene HBA2: c.1A>G Mutation.

Chen X et al.

Hemoglobin, 2020

In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene.

AbdulAzeez S et al.

Plos One, 2016

Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals.

Kimura EM et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

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