Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.K539del1
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JAK2

NM_004972.4:p.K539del1

Associated Papers

JAK2 mutational status and the contribution of TERT and JAK2 polymorphisms to the occurrence of myeloproliferative neoplasms in Eastern Morocco.

Belmokhtar KY et al.

African Health Sciences, 2024

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Geay A et al.

Clinical Case Reports, 2020

JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.

Godfrey AL et al.

Blood, 2012

A study of JAK2 (V617F) gene mutation in patients with chronic myeloproliferative disorders.

Hamidah NH et al.

La Clinica Terapeutica, 2012

The JAK2 exon 12 mutations: a comprehensive review.

Scott LM

American Journal of Hematology, 2011

Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Schnittger S et al.

Haematologica, 2009

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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."