Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E8Q
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HBB

NM_000518.5:p.E8Q

Associated Papers

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 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

De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.

Melamed D et al.

Genome Research, 2022

Hb Rush (HBB: c.304G>C): A Rare Variant Hemoglobin Mimicking the Hb S (HBB: c.20A>T) Variant on High Performance Liquid Chromatography.

Mashon RS et al.

Hemoglobin, 2020

Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy.

Gupta A et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2014

Pathology consultation on HbA(1c) methods and interferences.

Rhea JM et al.

American Journal of Clinical Pathology, 2014

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS et al.

Hemoglobin, 2014

A new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C].

Cai WJ et al.

Hemoglobin, 2014

Hemoglobin variants and high-performance liquid chromatography.

Nair S et al.

International Journal of Laboratory Hematology, 2013

A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC.

Edison ES et al.

International Journal of Laboratory Hematology, 2012

Application of flow cytometry-based genotyping for rapid detection of hemoglobin variants.

Aslanian S et al.

International Journal of Laboratory Hematology, 2007

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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."