Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.R301C
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KLF1

NM_006563.5:p.R301C

Associated Papers

Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.

Tangsricharoen T et al.

British Journal of Haematology, 2021

Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β-Thalassemia.

Zakaria NA et al.

Biomolecules, 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

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

Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis.

Rani N et al.

Blood Cells, Molecules & Diseases, 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

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

Perkins A et al.

Blood, 2016

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

Waye JS et al.

International Journal of Laboratory Hematology, 2015

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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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."