Associated Papers
"The Long Journey of Unexplained Erythrocytosis": Erythrocytosis due to High-Oxygen Affinity Hemoglobinopathy - Hemoglobin Variant Little Rock (HBB: c.432C>A) - A Report of a Swiss Family and Review of the Literature.
Perroud C et al.
Acta Haematologica, 2023
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-HBB
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS1.HybridClusters
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
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