Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.N20K
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HBD

NM_000519.4:p.N20K

Associated Papers

Complex interaction of δ-globin variant HbA2-Famagusta combined with β-globin variant Hb Monroe in cis with the HBB:c.-92C>G mutation: hematological characteristics and molecular diagnostic insights.

Panyasai S et al.

Expert Review of Hematology, 2025

Hb A2 Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.

Lederer CW et al.

Hematology (amsterdam, Netherlands), 2017

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Kountouris P et al.

Scientific Reports, 2016

Hb Famagusta--analysis of a novel δ-globin chain variant [HBD:c.60C>A] in four families with diverse globin genotypes.

Lederer CW et al.

Annals of Hematology, 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."