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
Capillary electrophoresis and mutational images of hemoglobin sendagi [Β42 (CD1) PHE → VAL; HBB: C.127T→G].
Recasens V et al.
Clinical Biochemistry, 2019
Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient.
Grimholt RM et al.
Hemoglobin, 2018
Case report: prenatal diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a family with an adult male patient.
Li R et al.
Hemoglobin, 2014
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