Varaico: Literature-Extracted Genetic Variants

Gene:HBE1
Variant:p.R31Splc
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HBE1

NM_005330.4:p.R31Splc

Associated Papers

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Molecular spectrum of β-thalassemia mutations in the admixed Venezuelan population, and their linkage to β-globin gene haplotypes.

Bravo-Urquiola M et al.

Hemoglobin, 2012

[Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia].

Bravo-Urquiola M et al.

Investigacion Clinica, 2006

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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."