Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.K292*
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KLF1

NM_006563.5:p.K292*

Associated Papers

Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis.

Caria CA et al.

Cells, 2022

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

Xu L et al.

Frontiers in Genetics, 2021

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

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes.

Singleton BK et al.

Blood, 2011

Erythroid phenotypes associated with KLF1 mutations.

Borg J et al.

Haematologica, 2011

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.

Singleton BK et al.

Blood, 2008

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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."