Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H93R
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HBB

NM_000518.5:p.H93R

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

Mozhaisk haemoglobin variant effects on leukocyte differential channel using the Sysmex XN series.

Moioli V et al.

Clinical Chemistry and Laboratory Medicine, 2019

Prevalence and spectrum of thalassaemia in Changsha, Hunan province, China: discussion of an innovative screening strategy.

He J et al.

Journal of Genetics, 2017

Hematological and Molecular Characterization of a Novel Hb A2 Variant with Homozygous α-Thalassemia-2 in a Southern Thai Individual.

Nuinoon M et al.

Hemoglobin, 2017

Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins.

Benzoni E et al.

Hemoglobin, 0

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