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-HBB
Activation of γ-globin expression by hypoxia-inducible factor 1α.
Feng R et al.
Nature, 2022
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity.
Luu HS et al.
Hemoglobin, 2019
The genetic basis and evolution of red blood cell sickling in deer.
Esin A et al.
Nature Ecology & Evolution, 2018
29255300 (PubMed )
Supplement: NIHMS75018-supplement-Supplemenatry_information.pdf
Two new hemoglobin variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C>A] and Hb madison-NC [β119(GH2)Gly→Ser; HBB: c.358G>A].
Kutlar F et al.
Hemoglobin, 2014
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