Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.K48_Y49Splc
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ENTPD1

NM_001776.6:p.K48_Y49Splc

Associated Papers

Base editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies.

Hardouin G et al.

Science Translational Medicine, 2025

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 2024

Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report.

Kurutaş EB et al.

Folia Medica, 2021

Molecular characterization and phenotypical study of β-thalassemia in Tucumán, Argentina.

Lazarte SS et al.

Hemoglobin, 2014

Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders.

Colah R et al.

Expert Review of Hematology, 2010

The relationship between the type of mutation in the globin gene and the type and severity of sickle/beta-thalassemia disease in Jordanian patients.

El-Akawi ZJ et al.

Saudi Medical Journal, 2009

Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control.

Hussein G et al.

Hemoglobin, 2007

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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."