Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R31Splc
Back to variants list

HBD

NM_000519.4:p.R31Splc

Associated Papers

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

Kattamis C et al.

Biology, 2022

Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.

Divoka M et al.

Hemoglobin, 2016

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Traeger-Synodinos J et al.

European Journal of Human Genetics : Ejhg, 2015

Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.

Giambona A et al.

Haematologica, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."