Varaico: Literature-Extracted Genetic Variants

Gene:HBG1
Variant:p.R31Splc
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HBG1

NM_000559.3: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

Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.

Zulkeflee RH et al.

Diagnostics (basel, Switzerland), 2023

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

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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."