Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.P19Splc
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BCL11A

NM_022893.4:p.P19Splc

Associated Papers

A Pragmatic Scoring Tool to Predict Hydroxyurea Response Among β-Thalassemia Major Patients in Pakistan.

Ansari SH et al.

Journal of Pediatric Hematology/oncology, 2022

Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels.

Satthakarn S et al.

Hemoglobin, 2020

Phenotype and Genotype in a Cohort of 312 Adult Patients with Nontransfusion-Dependent Thalassemia in Northeast Thailand.

Prayalaw P et al.

Acta Haematologica, 2016

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Liu D et al.

Blood, 2014

The correlation of α-globin gene mutations and the XmnI polymorphism with clinical severity of Hb E/β-thalassemia.

Charoenkwan P et al.

Hemoglobin, 2014

A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.

Nuinoon M et al.

Human Genetics, 2010

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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."