Associated Papers
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
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
A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10-_11delinsAA] causing elevated Hb A2 level.
Liang L et al.
Hematology (amsterdam, Netherlands), 2022
Hb Laibin [β96(FG3)Leu→Arg; HBB: c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family.
Huang YY et al.
Hemoglobin, 2022
First Detection of Hb Cenxi [β46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] by Capillary Electrophoresis.
Li YQ et al.
Hemoglobin, 2021
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