Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L4V
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HBB

NM_000518.5:p.L4V

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

A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10-_11delinsAA] causing elevated Hb A2 level.

Liang L et al.

Hematology (amsterdam, Netherlands), 2022

Analysis of a nuclear localization signal of simian virus 40 major capsid protein Vp1.

Ishii N et al.

Journal of Virology, 1996

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