Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.T334R
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KLF1

NM_006563.5:p.T334R

Associated Papers

Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.

Singha K et al.

Journal of Clinical Pathology, 2024

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

Identification of Lutheran Blood Groups and Genetic Variants within KLF1 among Thai Blood Donors.

Intharanut K et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2023

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.

Singha K et al.

Scientific Reports, 2023

Hemoglobin EE disease in young Laotian children: Hematologic features and the contributions of genetic variations to Hb F expression.

Arong A et al.

International Journal of Laboratory Hematology, 2023

Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population.

Srivorakun H et al.

Archives of Medical Science : Ams, 2022

Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.

Eernstman J et al.

Scientific Reports, 2021

Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review.

Xu L et al.

Frontiers in Genetics, 2021

Dominant β-thalassaemia with unusually high Hb A2 and Hb F caused by βCD121(-G) (HBB:c.364delG) in exon 3 of β-globin gene.

Singha K et al.

Journal of Clinical Pathology, 2020

Molecular Analysis of Non-Transfusion Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia Disease without α-Thalassemia.

Phanrahan P et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2019

KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population.

Jiang F et al.

Hemoglobin, 2018

KLF1 gene and borderline hemoglobin A2 in Saudi population.

Borgio JF et al.

Archives of Medical Science : Ams, 2018

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Shang X et al.

Ebiomedicine, 2017

28865746 (PubMed )
Supplement: mmc1.docx

Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?

Mikołajczyk K et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2016

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

Roy NB et al.

British Journal of Haematology, 2016

Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder.

Tepakhan W et al.

Blood Cells, Molecules & Diseases, 2016

Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.

Perkins A et al.

Blood, 2016

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.

Yu LH et al.

Clinical Genetics, 2015

Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome.

Tepakhan W et al.

Annals of Hematology, 2015

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

Waye JS et al.

International Journal of Laboratory Hematology, 2015

Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals.

Lou JW et al.

Blood Cells, Molecules & Diseases, 2014

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

Liu D et al.

Blood, 2014

Blood group phenotypes resulting from mutations in erythroid transcription factors.

Singleton BK et al.

Current Opinion in Hematology, 2012

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.

Gallienne AE et al.

Haematologica, 2012

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