Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.N542_E543del0
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JAK2

NM_004972.4:p.N542_E543del0

Associated Papers

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

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc6.xlsx › Sheet1

From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis.

Larráyoz MJ et al.

Cancers, 2025

Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies.

Schilter KF et al.

Frontiers in Genetics, 2023

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Becker H et al.

Annals of Hematology, 2020

32504186 (PubMed )
Supplement: 277_2020_4082_MOESM1_ESM.pdf

JAK2 exon 12 mutations in cases with JAK2V617F-negative polycythemia vera and primary myelofibrosis.

Maddali M et al.

Annals of Hematology, 2020

Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies.

Keegan A et al.

Archives of Pathology & Laboratory Medicine, 2020

High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance.

Park CH et al.

Journal of Clinical Pathology, 2016

JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan.

Edahiro Y et al.

International Journal of Hematology, 2014

Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology.

Gong JZ et al.

The Journal of Molecular Diagnostics : Jmd, 2013

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

Furtado LV et al.

The Journal of Molecular Diagnostics : Jmd, 2013

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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."