Varaico: Literature-Extracted Genetic Variants

Gene:HBG2
Variant:p.E6V
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HBG2

NM_000184.3:p.E6V

Associated Papers

Fetal hemoglobin regulating genetic variants identified in homozygous (HbSS) and heterozygous (HbSA) subjects from South Mexico.

Rizo-de la Torre LC et al.

Journal of Tropical Pediatrics, 2022

Genetic predictions of life expectancy in southern Thai patients with β0-thalassemia/Hb E.

Nuinoon M et al.

Biomedical Reports, 2022

Plasma proteome profiling combined with clinical and genetic features reveals the pathophysiological characteristics of β-thalassemia.

Li N et al.

Iscience, 2022

Unique Polymorphisms at BCL11A, HBS1L-MYB and HBB Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease.

Akbulut-Jeradi N et al.

Journal of Personalized Medicine, 2021

Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease.

Thein SL

Advances in Experimental Medicine and Biology, 2017

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer.

Mtatiro SN et al.

Bmc Medical Genetics, 2015

Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania.

Mtatiro SN et al.

American Journal of Hematology, 2015

Automated analysis of hemoglobin variants using nanoLC-MS and customized databases.

Das R et al.

Journal of Proteome Research, 2013

23692286 (PubMed )
Supplement: pr4000625_si_001.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."