Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.K48_Y49Splc
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ENTPD1

NM_001776.6:p.K48_Y49Splc

Associated Papers

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

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Association in cis of the mutations +20 (C>T) in the 5' untranslated region and IVS-II-745 (C>G) on the β-globin gene.

Ropero P et al.

Hemoglobin, 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

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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."