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
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › _5_position
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island.
Giambona A et al.
Blood Cells, Molecules & Diseases, 2011
A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt.
Shomali W et al.
Hemoglobin, 0
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