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-Full_dataset
Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family.
Pernudy-Ubau A et al.
Hemoglobin, 2017
The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).
Grosse R et al.
Pediatric Blood & Cancer, 2016
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R et al.
Hemoglobin, 2014
A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A].
Saller E et al.
Hemoglobin, 2014
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