Varaico: Literature-Extracted Genetic Variants

Gene:SUPT5H
Variant:p.R469delFs
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SUPT5H

NM_001111020.3:p.R469delFs

Associated Papers

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Harteveld CL et al.

International Journal of Molecular Sciences, 2024

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

Lou J et al.

International Journal of Laboratory Hematology, 2023

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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."