Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.K10Q
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ENTPD1

NM_001776.6:p.K10Q

Associated Papers

Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.

Shoujaa A et al.

Hemoglobin, 2020

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

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."