Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R41S
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HBB

NM_000518.5:p.R41S

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

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS1.HybridClusters

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

Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype.

Smith DL et al.

Hemoglobin, 2016

β-Globin gene sequencing of hemoglobin Austin revises the historically reported electrophoretic migration pattern.

Racsa LD et al.

Archives of Pathology & Laboratory Medicine, 2014

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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."