Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.R564*
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JAK2

NM_004972.4:p.R564*

Associated Papers

JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.

Stewart BL et al.

Blood Advances, 2025

Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.

Kuek WCD et al.

Molecular Genetics & Genomic Medicine, 2024

A novel JAK2 R564* variant in a patient with thrombocytosis.

Villanueva A et al.

International Journal of Laboratory Hematology, 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."