Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.K539delins
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JAK2

NM_004972.4:p.K539delins

Associated Papers

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › RDW_cohort

Comment on "Features and Allele Frequency of JAK2 exon 12-mutated Polycythemia Vera in Comparison with JAK2 V617F-mutated Disease".

Langabeer SE

Archives of Medical Research, 2025

Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of JAK2, CALR, and MPL in Myeloproliferative Neoplasms.

Frawley T et al.

Genetic Testing and Molecular Biomarkers, 2018

A multiplexed fragment analysis-based assay for detection of JAK2 exon 12 mutations.

Furtado LV et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera.

Nussenzveig RH et al.

Leukemia & Lymphoma, 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."