Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.F182L
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KLF1

NM_006563.5:p.F182L

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

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

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

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

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

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Giardine B et al.

Nature Genetics, 2011

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