Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L29R
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HBB

NM_000518.5:p.L29R

Associated Papers

A Kindred With Dominantly Inherited β-Thalassemia (Hemoglobin Chesterfield) Showing a Therapeutic Efficacy of Luspatercept.

Xie Y et al.

Pediatric Blood & Cancer, 2025

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Byrou S et al.

International Journal of Molecular Sciences, 2025

39859286 (PubMed )
Supplement: ijms-26-00570-s001.zip › Supplementary.pdf

The first Chinese with Hb Chile leading to chronic anemia and methemoglobinemia: a case report.

Gong Y et al.

Bmc Pediatrics, 2023

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

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

Martin G et al.

Hemoglobin, 2021

A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.

Bienz MN et al.

Hemoglobin, 2019

Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)].

Croteau SE et al.

Pediatric Blood & Cancer, 2013

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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."