Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105_L106Splc
Back to variants list

HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Haplotypes inside the beta-globin gene: use as new biomarkers for beta-thalassemia prenatal diagnosis in north of Iran.

Hashemi-Soteh MB et al.

Journal of Biomedical Science, 2017

Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children.

Yus Cebrian F et al.

Bmc Research Notes, 2016

Genetic determinants of β-thalassemia intermedia in Pakistan.

Khan J et al.

Hemoglobin, 2015

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Joly P et al.

Haematologica, 2013

Association in cis of the mutations +20 (C>T) in the 5' untranslated region and IVS-II-745 (C>G) on the β-globin gene.

Ropero P et al.

Hemoglobin, 2013

Molecular mechanisms of a novel β-thalassaemia mutation due to the duplication of tetranucleotide 'AGCT' at the junction IVS-II/exon 3.

Musollino G et al.

Annals of Hematology, 2012

β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].

Waye JS et al.

Hemoglobin, 2011

Origin of the frameshift codons 41/42 (-TCTT) mutation in the first cases described in the Spanish population.

Ropero P et al.

Hemoglobin, 2008

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."