Associated Papers
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
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
A Novel β-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly.
Collier AB et al.
Hemoglobin, 2016
Hereditary gene mutations in Korean patients with isolated erythrocytosis.
Jang JH et al.
Annals of Hematology, 2014
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