Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L79insFs
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HBB

NM_000518.5:p.L79insFs

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

Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.

Aziz MA et al.

Hemoglobin, 2020

A Novel β-Thalassemia Insertion/Frameshift Mutation Between Codons 77/78 (p.Leu78Profs*13 or HBB: c.235_236insC) Observed in a Family in Bangladesh.

Aziz A et al.

Hemoglobin, 0

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