Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.F43C
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HBB

NM_000518.5:p.F43C

Associated Papers

Comment on: Severe β-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia-The deceivingly normal mean corpuscular volume and hemoglobin electrophoresis in dominantly inherited β-thalassemia: Hb Little Venice.

Lee AC et al.

Pediatric Blood & Cancer, 2024

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-HBB

[Genotypic and hematological characteristics of 83 β-thalassemia mutation carriers and patients from Henan Province].

Wang W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient.

Grimholt RM et al.

Hemoglobin, 2018

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters.

Mehrabi M et al.

Hemoglobin, 2013

Hemoglobinopathies in North Africa: a review.

Haj Khelil A et al.

Hemoglobin, 2010

Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.

Boudrahem-Addour N et al.

Hemoglobin, 2009

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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."