Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.W30*
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KLF1

NM_006563.5:p.W30*

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

Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.

Bieker JJ et al.

Advances in Experimental Medicine and Biology, 2024

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

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Variable serologic and other phenotypes due to KLF1 mutations.

Gillinder K et al.

Transfusion, 2018

Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.

Keller J et al.

Transfusion, 2018

An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.

Lee HH et al.

Hemoglobin, 2016

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

KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.

Magor GW et al.

Blood, 2015

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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."