Varaico: Literature-Extracted Genetic Variants

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

HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 2024

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 2024

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-Full_dataset

Autoimmune hepatitis in genetic syndromes: A literature review.

Capra AP et al.

World Journal of Hepatology, 2021

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.

Patsali P et al.

Journal of Clinical Medicine, 2019

31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf

A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC).

Chen JK et al.

Hemoglobin, 2018

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Molecular basis and prenatal diagnosis of β-thalassemia among Balouch population in Iran.

Miri-Moghaddam E et al.

Prenatal Diagnosis, 2011

Application of diagnostic methods and molecular diagnosis of hemoglobin disorders in Khuzestan province of Iran.

Fakher R et al.

Indian Journal of Human Genetics, 2007

Splice junction [IVS-II-1 (G-->C)] thalassemia; a new mutation detected in an Iranian patient.

Nozari G et al.

Hemoglobin, 1993

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."