Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.S270W
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KLF1

NM_006563.5:p.S270W

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

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11

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

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

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

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

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

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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."