Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.W38C
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HBB

NM_000518.5:p.W38C

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

Hb Alessandria [β37(C3)Trp→Leu; HBB: c.113G>T]: a Novel Variant on the β-Globin Chain with Slightly Increased Affinity for Oxygen Detected by Capillary Electrophoresis.

Calcagno L et al.

Hemoglobin, 2022

First Report of Hb Kent [β37(C3)Trp→Cys (TGG>TGC) HBB: c.114G>C] in a Chinese Family.

Chan NCN et al.

Hemoglobin, 0

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