Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105_L106Splc
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HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.

Zhao Y et al.

Hemoglobin, 2020

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

Analysis of the Genotypes in a Chinese Population with Increased Hb A2 and Low Hematological Indices.

Jiang F et al.

Hemoglobin, 2018

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Mild β(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).

Waye JS et al.

Hemoglobin, 2013

Hemoglobinopathies in North Africa: a review.

Haj Khelil A et al.

Hemoglobin, 2010

Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.

Boudrahem-Addour N et al.

Hemoglobin, 2009

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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."