Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L15L
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HBB

NM_000518.5:p.L15L

Associated Papers

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

Zhuang J et al.

Bmc Medical Genomics, 2024

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.

Zhuang J et al.

Frontiers in Genetics, 2021

Masking of a β-thalassemia determinant by a novel δ-globin gene defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis.

Colaco S et al.

Hemoglobin, 2014

Molecular mechanisms of a novel β-thalassaemia mutation due to the duplication of tetranucleotide 'AGCT' at the junction IVS-II/exon 3.

Musollino G et al.

Annals of Hematology, 2012

The 4-bp deletion (-AAAC) in the 5' untranslated region of the beta-globin gene: a simple polymorphism?

Li DZ et al.

Annals of Hematology, 2009

Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers.

Colaco S et al.

Mutation Research. Reviews in Mutation Research, 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."