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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THPO

Variant:p.E5Splc

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THPO

NM_000460.4:p.E5Splc

hg38:chr3:184376245 A>G

Associated Papers

Relative impact of THPO mutation causing hereditary thrombocythemia.

Kimura H et al.

Experimental Hematology, 2024

38548144 (PubMed )

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

Kimura H et al.

Platelets, 2023

37941443 (PubMed )

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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."