Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.S102P
Back to variants list

KLF1

NM_006563.5:p.S102P

Associated Papers

The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.

Chetta M et al.

The Application of Clinical Genetics, 2025

Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.

Loh JB et al.

Annals of Hematology, 2024

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

Singha K et al.

Journal of Clinical Pathology, 2024

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.

Liang G et al.

Molecular Genetics and Genomics : Mgg, 2024

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

Ye L et al.

Bmc Genomics, 2024

Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry.

Manco L et al.

Journal of Genetics, 2024

Identification of Lutheran Blood Groups and Genetic Variants within KLF1 among Thai Blood Donors.

Intharanut K et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2023

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

Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience.

Chen M et al.

Journal of Clinical Laboratory Analysis, 2022

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

Hyun J et al.

Plos One, 2022

1–50 of 77 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."