Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.E5K
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THPO

NM_000460.4:p.E5K

Associated Papers

Relative impact of THPO mutation causing hereditary thrombocythemia.

Kimura H et al.

Experimental Hematology, 2024

Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.

Kimura H et al.

Platelets, 2023

A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis.

Prouzet-Mauléon V et al.

British Journal of Haematology, 2020

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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."