Varaico: Literature-Extracted Genetic Variants

Gene:HBG1
Variant:p.K105_L106Splc
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HBG1

NM_000559.3:p.K105_L106Splc

Associated Papers

The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.

Chetta M et al.

The Application of Clinical Genetics, 2025

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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."