Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.A136P
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HBB

NM_000518.5:p.A136P

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-HBB

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS et al.

Hemoglobin, 2014

Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin.

Marsella M et al.

Hemoglobin, 2014

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