Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.R319fs
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KLF1

NM_006563.5:p.R319fs

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

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

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

Waye JS et al.

International Journal of Laboratory Hematology, 2015

KLF1 gene mutations cause borderline HbA(2).

Perseu L et al.

Blood, 2011

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

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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."