Varaico: Literature-Extracted Genetic Variants

Gene:HBG2
Variant:p.R31Splc
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HBG2

NM_000184.3:p.R31Splc

Associated Papers

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited

Kattamis C et al.

Biology, 2022

Genetic variation patterns of β-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula.

Sánchez-Martínez LJ et al.

Annals of Human Biology, 2021

Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.

Adekile A et al.

Journal of Personalized Medicine, 2021

Genetic epidemiology of hemoglobinopathies among Iraqi Kurds.

Al-Allawi N et al.

Journal of Community Genetics, 2021

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

Faraon R et al.

Bmc Hematology, 2019

The Sickle β-Thalassemia Phenotype.

Adekile AD et al.

Journal of Pediatric Hematology/oncology, 2017

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.

Shamoon RP et al.

Hemoglobin, 2015

Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait.

Adekile AD et al.

Hemoglobin, 2015

Molecular analysis of gamma-globin promoters, HS-111 and 3'HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F.

Hamid M 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."