Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R41K
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HBB

NM_000518.5:p.R41K

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 Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; HBB: c.22G>A] and Hb H Disease.

Guan ZY et al.

Hemoglobin, 2022

Elevated Hb A2 is Not Always Indicative of β-Thalassemia.

Luo LP et al.

Hemoglobin, 2021

Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects.

Panyasai S et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity.

Luu HS et al.

Hemoglobin, 2019

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Riou J et al.

International Journal of Laboratory Hematology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."