Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.E6Splc
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ENTPD1

NM_001776.6:p.E6Splc

Associated Papers

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

Lazarte SS et al.

Hemoglobin, 2014

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

López-Escribano H et al.

Clinical Genetics, 2013

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

Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report.

Shoujaa A et al.

Hemoglobin, 0

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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."