Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.D95Y
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HBA2

NM_000517.6:p.D95Y

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

α-Thalassemia Mutations in Ilam Province, West Iran.

Moradi K et al.

Hemoglobin, 2022

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

Khalil MSM et al.

Hemoglobin, 2020

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

Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

Keikhaei B et al.

Biochemical Genetics, 2018

Molecular diagnosis of α-thalassemia in a multiethnic population.

Gilad O et al.

European Journal of Haematology, 2017

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Kountouris P et al.

Scientific Reports, 2016

Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population.

Farashi S et al.

Hemoglobin, 2016

Novel mutations responsible for α-thalassemia in Iranian families.

Bayat N et al.

Hemoglobin, 2013

Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29(B10)Leu→Pro (α2)].

Traeger-Synodinos J et al.

Hemoglobin, 2010

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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