Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.W38G
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HBB

NM_000518.5:p.W38G

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

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.

Alvarez-Dominguez JR et al.

The Journal of Biological Chemistry, 2013

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