Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.K29_W30Splc
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KLF1

NM_006563.5:p.K29_W30Splc

Associated Papers

A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.

Song M et al.

Blood Advances, 2025

40197981 (PubMed )
Supplement: BLOODA_ADV-2024-013695-mmc3.docx

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Ye Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39737841 (PubMed )
Supplement: ADVS-12-2410992-s001.docx

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

Satthakarn S et al.

Hemoglobin, 2020

Regulatory Single Nucleotide Polymorphism rs368698783 (G>A): a Genetic Modifier of Hb F Production Only under Erythropoietic Stress Characteristic for β-Globin Chain Deficiency?

Jiang F et al.

Hemoglobin, 2019

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

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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."