Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R31Splc
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HBD

NM_000519.4:p.R31Splc

Associated Papers

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.

He S et al.

Frontiers in Pediatrics, 2021

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Kountouris P et al.

Scientific Reports, 2016

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

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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."