Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.D80Y
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HBB

NM_000518.5:p.D80Y

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 Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement.

Ahmad-Nielsen EB et al.

Hemoglobin, 2022

Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype.

Smith DL et al.

Hemoglobin, 2016

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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