Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.T68I
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HBA2

NM_000517.6:p.T68I

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-HBA2

Hb Guangxi [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel β-Globin Variant.

Xu M et al.

Hemoglobin, 2021

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

Hb Jishui [HBA1: c.225C>G, Codon 74 (GAC>GAG), Asp→Glu]: A Novel α Chain Hemoglobin Variant Detected During Hb A1c Measurement.

Xie W et al.

Hemoglobin, 2021

Hb broomhill [α1 or α2 114(GH2) pro > ala;HBA1 or HBA2:c.343C > G]: a rare Hb variant found in a diabetic chinese individual.

Yuan Y et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2020

Hb Sichuan [α67(E16)Thr→Ile, HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis.

Xu AP et al.

Hemoglobin, 0

Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G], and the - -SEA (Southeast Asian) α-Thalassemia Deletion.

Chen WD et al.

Hemoglobin, 0

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