Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.R322S
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KLF1

NM_006563.5:p.R322S

Associated Papers

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

Xu L et al.

Frontiers in Genetics, 2021

Investigation of the variable In(Lu) phenotype caused by KLF1 variants.

Fraser NS et al.

Transfusion, 2018

Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.

Schoeman EM et al.

Transfusion, 2018

Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.

Kawai M et al.

Transfusion, 2017

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

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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."