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
Unstable hemoglobin Bicêtre, NM_000518.4(HBB):C.191A>C (p.His64Pro), with slightly decreased P50 and no polycythemia after splenectomy.
Sakamoto A et al.
Pediatric Blood & Cancer, 2022
A new case of Bicêtre hemoglobin in an adult male: clinical observations over a period of four years.
Farfán-Quiroga G et al.
Annals of Hematology, 2022
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.
Martin G et al.
Hemoglobin, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Select a paper to view details