Varaico: Literature-Extracted Genetic Variants

Gene:EPB42
Variant:p.R457H
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EPB42

NM_000119.3:p.R457H

Associated Papers

Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye

Doğru Ö et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025

Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.

Qin L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."