Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.E5Splc
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THPO

NM_000460.4:p.E5Splc

Associated Papers

Relative impact of THPO mutation causing hereditary thrombocythemia.

Kimura H et al.

Experimental Hematology, 2024

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.

Kimura H et al.

Annals of Hematology, 2024

Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea.

Jung N et al.

Annals of Laboratory Medicine, 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."