Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E27K
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HBD

NM_000519.4:p.E27K

Associated Papers

Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A2 levels or hemoglobin A2 variants: A single center experience.

Hanart C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

Noor FA et al.

Orphanet Journal of Rare Diseases, 2020

Comparison of the characteristics of two hemoglobin variants, Hb D-Iran and Hb E, eluting in the Hb A2 window.

Dass J et al.

Blood Research, 2017

Detection of Hb anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) in Chinese individuals.

Lou JW et al.

Hemoglobin, 2014

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Khalil MS et al.

Hemoglobin, 2014

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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."