Associated Papers
Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude.
Asseri AA et al.
Hematology (amsterdam, Netherlands), 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
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 F-Wentzville [Gγ24(B6)Gly→Glu; HBG2: c.74G>A, p.Gly25Glu]: An Unstable Gγ-Globin Variant Associated with Neonatal Hemolytic Anemia.
Semkiu KM et al.
Hemoglobin, 2020
Hb Moscva [β24(B6)Gly→Asp (GGT>GAT), HBB: c.74G>A]: An Unstable Hemoglobin Newly Detected as a De Novo Mutation in a Mauritanian Patient.
Ghaber SM et al.
Hemoglobin, 2018
Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.
Farashi S et al.
Hemoglobin, 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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