Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.H3N
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HBD

NM_000519.4:p.H3N

Associated Papers

Hb A2-Calderdale [δ2(NA2)His→Asn; HBD: c.7C>A] and Misdiagnosis of Type 2 Diabetes Mellitus Due to Interference with Hb A1c When Using Cation Exchange High Performance Liquid Chromatography: A Case Report.

Stangerup I et al.

Hemoglobin, 2021

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

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

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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."