Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.E6Splc
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ENTPD1

NM_001776.6:p.E6Splc

Associated Papers

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

Kurutaş EB et al.

Folia Medica, 2021

Molecular and clinical analysis of haemoglobin Lepore in Campania, a region of Southern Italy.

Ricchi P et al.

Hematology (amsterdam, Netherlands), 2017

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence.

Sousos N et al.

Acta Haematologica, 2017

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

Lazarte SS et al.

Hemoglobin, 2014

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Balearic archipelago: three islands, three beta-thalassemia population patterns.

López-Escribano H et al.

Clinical Genetics, 2013

beta-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C --> T/-28 A --> C.

Gamarra S et al.

Advances in Hematology, 2009

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.

Galbiati S et al.

Haematologica, 2008

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

[Prevalence of hemoglobinopathies in pregnant women in the Lanzarote health sanitary area].

Calvo-Villas JM et al.

Anales De Medicina Interna (madrid, Spain : 1984), 2006

Molecular analysis of the Turkish form of deletion-inversion (delta beta)(0) thalassaemia.

Oner C et al.

British Journal of Haematology, 1997

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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."