Varaico: Literature-Extracted Genetic Variants

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

HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia.

Alenzi FQ et al.

Saudi Journal of Biological Sciences, 2019

Unusual β-Globin Haplotype Distribution in Newborns from Bengo, Angola.

Borges E et al.

Hemoglobin, 2019

A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.

Alaithan MA et al.

Saudi Medical Journal, 2018

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.

Yasmeen H et al.

European Journal of Medical Genetics, 2016

Mutations in the β-globin gene from a Saudi population: an update.

Borgio JF et al.

International Journal of Laboratory Hematology, 2016

The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.

Sirdah MM et al.

Blood Cells, Molecules & Diseases, 2013

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."