Varaico: Literature-Extracted Genetic Variants

Gene:KLF1
Variant:p.G305Splc
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KLF1

NM_006563.5:p.G305Splc

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

HBB mutations and HbA2 level: Escaping the carrier screening programs.

Sharifi A et al.

Clinical Case Reports, 2021

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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

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

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Liu D et al.

Blood, 2014

Utility of the multivariate approach in predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients.

Banan M et al.

Hemoglobin, 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."