Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.E543_D544del0
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JAK2

NM_004972.4:p.E543_D544del0

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: mmc14.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

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

JAK2V617F variant allele frequency, non-driver mutations, single-nucleotide variants and polycythemia vera outcome.

Kanduła Z et al.

Journal of Cancer Research and Clinical Oncology, 2023

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.

Pegliasco J et al.

Leukemia, 2022

GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients.

Panferova A et al.

International Journal of Laboratory Hematology, 2021

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."