Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.F182L
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KLF1

NM_006563.5:p.F182L

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 2026

41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc1.pdf

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Ye Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.

Singha K et al.

Journal of Clinical Pathology, 2024

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.

Ye L et al.

Bmc Genomics, 2024

Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

Chin HL et al.

Molecular Genetics & Genomic Medicine, 2024

Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like Phenotypes.

Catapano R et al.

Biology, 2023

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

Caria CA et al.

Cells, 2022

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

The genomic landscape of blood groups in Indigenous Australians in remote communities.

Jadhao S et al.

Transfusion, 2022

35403234 (PubMed )
Supplement: TRF-62-1110-s001.xlsx › Supplementary_Table_3

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

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11

Prediction of various blood group systems using Korean whole-genome sequencing data.

Hyun J et al.

Plos One, 2022

35657818 (PubMed )
Supplement: pone.0269481.s003.xlsx › 107

Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β-Thalassemia.

Zakaria NA et al.

Biomolecules, 2021

Krüppel-like factor 1 (KLF1) gene single nucleotide polymorphisms in sickle cell disease and its association with disease-related morbidities.

Kumar R et al.

Annals of Hematology, 2021

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

Xu L et al.

Frontiers in Genetics, 2021

Association Between Genetic Polymorphisms and Hb F Levels in Heterozygous β-Thalassemia 3.5 kb Deletions.

Tepakhan W et al.

Hemoglobin, 2020

Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia.

Nicolau M et al.

Annals of Hematology, 2019

Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia.

Tamaddoni A et al.

Hemoglobin, 2019

Survey and evaluation of mutations in the human KLF1 transcription unit.

Gnanapragasam MN et al.

Scientific Reports, 2018

Mutation Screening of the Krüppel-like Factor 1 Gene in Individuals With Increased Fetal Hemoglobin Referred for Hemoglobinopathy Investigation in South of Iran.

Hamid M et al.

Journal of Pediatric Hematology/oncology, 2018

A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.

Alaithan MA et al.

Saudi Medical Journal, 2018

Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in β0-thalassemia/HbE disease.

Khamphikham P et al.

International Journal of Hematology, 2018

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

Keller J et al.

Transfusion, 2018

KLF1 gene and borderline hemoglobin A2 in Saudi population.

Borgio JF et al.

Archives of Medical Science : Ams, 2018

Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype.

Hariharan P et al.

Molecular Biology Reports, 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

Mutation screening of the Krüppel-like factor 1 gene using single-strand conformational polymorphism in a cohort of Iranian β-thalassemia patients.

Zaker-Kandjani B et al.

Hemoglobin, 2015

Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.

Helias V et al.

Human Mutation, 2013

Blood group phenotypes resulting from mutations in erythroid transcription factors.

Singleton BK et al.

Current Opinion in Hematology, 2012

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