Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E44K
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HBB

NM_000518.5:p.E44K

Associated Papers

Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.

Qin D et al.

Annals of Medicine, 2025

Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.

Xu J et al.

Frontiers in Genetics, 2025

40697540 (PubMed )
Supplement: Table1.xlsx › _Supplementary_Table_S1

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

Genetics background of β-thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization.

Tepakhan W et al.

Annals of Human Genetics, 2021

First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G).

Ogu UO et al.

Hemoglobin, 2021

Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin.

Jamaluddin MFB et al.

Endocrinology, 2018

Hemoglobin Hornchurch [β43 (CD2) Glu > Lys; HBB: c.130G > A] in a Chinese boy complicated with thrombocytopenia: A case report and literature review.

Shi H et al.

Medicine, 2017

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

Hemoglobinopathies in North Africa: a review.

Haj Khelil A et al.

Hemoglobin, 2010

A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction.

Old JM et al.

Hemoglobin, 2001

Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A] Compromises the Molecular Diagnosis of β-Thalassemia in a Chinese Family.

Zhao Y et al.

Hemoglobin, 0

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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."