Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.S53F
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HBA2

NM_000517.6:p.S53F

Associated Papers

Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.

Yang WJ et al.

Frontiers in Immunology, 2025

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 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

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

Faraon R et al.

Bmc Hematology, 2019

Hematopoietic SCT for the Black African and non-Black African variants of sickle cell anemia.

Lucarelli G et al.

Bone Marrow Transplantation, 2014

A new β(0)-thalassemia mutation (codon 102, AAC>ATCAC) in coexistence with a heterozygous P4.2 Nippon gene.

Adhiyanto C et al.

Hemoglobin, 2013

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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