Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.G176fs
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KLF1

NM_006563.5:p.G176fs

Associated Papers

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

Ye L et al.

Bmc Genomics, 2024

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.

Singha K et al.

Scientific Reports, 2023

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

Lou J et al.

International Journal of Laboratory Hematology, 2023

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

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11

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

Xu L et al.

Frontiers in Genetics, 2021

Variable serologic and other phenotypes due to KLF1 mutations.

Gillinder K et al.

Transfusion, 2018

A KLF1 gene mutation causes β-thalassemia minor in a Chinese family.

Huang LY et al.

International Journal of Laboratory Hematology, 2018

δ-Thalassemia with Complete Absence of Hb A2 in a Chinese Family.

Tang HS et al.

Hemoglobin, 2018

Validation of the multiplex ligation-dependent probe amplification assay and its application on the distribution study of the major alleles of 17 blood group systems in Chinese donors from Guangzhou.

Ji Y et al.

Transfusion, 2017

An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.

Lee HH et al.

Hemoglobin, 2016

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

Waye JS et al.

International Journal of Laboratory Hematology, 2015

A novel 519_525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a-b-) phenotype.

Wang Z et al.

Transfusion, 2013

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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."