Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K66M
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HBB

NM_000518.5:p.K66M

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 Guangxi [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel β-Globin Variant.

Xu M et al.

Hemoglobin, 2021

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

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

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