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

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

Kimura H et al.

Platelets, 2023

Proteomic landscapes of inherited platelet disorders with different etiologies.

Kreft IC et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Stockklausner C et al.

Annals of Hematology, 2021

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

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Plo I et al.

Frontiers in Endocrinology, 2017

Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias.

Houwing ME et al.

International Journal of Hematology, 2015

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC et al.

Nature Genetics, 2015

Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.

Stockklausner C et al.

Annals of Hematology, 2012

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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."