Varaico: Literature-Extracted Genetic Variants

Gene:HBZ
Variant:p.R32Splc
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HBZ

NM_005332.3:p.R32Splc

Associated Papers

Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.

Zulkeflee RH et al.

Diagnostics (basel, Switzerland), 2023

Relationship between neonatal screening results by HPLC and the number of α-thalassaemia gene mutations; consequences for the cut-off value.

Bouva MJ et al.

Journal of Medical Screening, 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."