Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.D544del1
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JAK2

NM_004972.4:p.D544del1

Associated Papers

The prevalence of JAK2 exon12 mutations in Vietnamese patients with JAK2 V617F-negative polycythemia vera: frequent or rare?

Nguyen NT et al.

Human Heredity, 2022

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.

Easwar A et al.

Life (basel, Switzerland), 2021

Polycythemia vera in a 2-year-old child with a JAK2 exon 12 deletion.

Dermott SM et al.

Pediatric Blood & Cancer, 2021

Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.

Stuckey R et al.

International Journal of Molecular Sciences, 2021

A Broad Overview of Signaling in Ph-Negative Classic Myeloproliferative Neoplasms.

Guijarro-Hernández A et al.

Cancers, 2021

Prevalence of prothrombotic factors in patients with Budd-Chiari syndrome or non-cirrhotic nonmalignant portal vein thrombosis: A hospital-based observational study.

Fan J et al.

Journal of Gastroenterology and Hepatology, 2020

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

Geay A et al.

Clinical Case Reports, 2020

Recent insights regarding the molecular basis of myeloproliferative neoplasms.

Jang MA et al.

The Korean Journal of Internal Medicine, 2020

JAK2 exon 12 mutated polycythemia vera: Mayo-Careggi MPN Alliance study of 33 consecutive cases and comparison with JAK2V617F mutated disease.

Tefferi A et al.

American Journal of Hematology, 2018

HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.

Liu Q et al.

Cancer Biology & Therapy, 2017

Detection Mutations of JAK2 exon 12 in Patients with JAK2 (V617F)-negative Myeloproliferative Disorders.

Makani SZ et al.

The Gulf Journal of Oncology, 2017

A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.

Liu Q et al.

Endocrine Pathology, 2017

Somatic JAK2 mutations and their tumor phenotypes.

Tefferi A

Blood, 2016

Detection of JAK2 Exon 12 Mutations in JAK2 V617F-Negative Polycythemia Vera Patients by Cloning Technique.

Leszczynska A et al.

Acta Haematologica, 2016

The Prevalence of JAK2, MPL, and CALR Mutations in Chinese Patients With BCR-ABL1-Negative Myeloproliferative Neoplasms.

Lin Y et al.

American Journal of Clinical Pathology, 2015

Thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis: an observational study with a systematic review of the literature.

Qi X et al.

European Journal of Gastroenterology & Hepatology, 2015

[Complex molecular genetic algorithm in the diagnosis of myeloproliferative neoplasms].

Krähling T et al.

Orvosi Hetilap, 2014

JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients.

Wang H et al.

Journal of Gastroenterology and Hepatology, 2014

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

Edahiro Y et al.

International Journal of Hematology, 2014

Comprehensive review of JAK inhibitors in myeloproliferative neoplasms.

Sonbol MB et al.

Therapeutic Advances in Hematology, 2013

Methods for detecting mutations in the human JAK2 gene.

Bench AJ et al.

Methods in Molecular Biology (clifton, N.j.), 2013

A highly sensitive quantitative real-time PCR assay for determination of mutant JAK2 exon 12 allele burden.

Kjær L et al.

Plos One, 2012

The JAK2 exon 12 mutations: a comprehensive review.

Scott LM

American Journal of Hematology, 2011

Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies.

Passamonti F et al.

Oncotarget, 2011

Genetics of the myeloproliferative neoplasms.

Abdel-Wahab O

Current Opinion in Hematology, 2011

High percentage of JAK2 exon 12 mutation in Asian patients with polycythemia vera.

Yeh YM et al.

American Journal of Clinical Pathology, 2010

Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing.

Laughlin TS et al.

The Journal of Molecular Diagnostics : Jmd, 2010

The 'GGCC' haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera.

Olcaydu D et al.

Leukemia, 2009

Detection of low allele burden of JAK2 exon 12 mutations using TA-cloning in patients with erythrocytosis.

Ohyashiki JH et al.

Japanese Journal of Clinical Oncology, 2009

A novel JAK2 exon 12 mutation identified in the retrospective analysis of paraffin-embedded tissues of polycythemia vera patients.

Burjanivova T et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2009

Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones.

Beer PA et al.

British Journal of Haematology, 2009

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

Schnittger S et al.

Haematologica, 2009

Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis.

Rumi E et al.

Journal of Internal Medicine, 2009

JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature.

Yoo JH et al.

Cancer Genetics and Cytogenetics, 2009

Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

Tefferi A

Journal of Cellular and Molecular Medicine, 2009

Low frequency of JAK2 exon 12 mutations in classic and atypical CMPDs.

Ormazábal C et al.

Leukemia Research, 2008

Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations.

Li S et al.

Blood, 2008

Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.

Pietra D et al.

Blood, 2008

Somatic mutations of JAK2 exon 12 as a molecular basis of erythrocytosis.

Cazzola M

Haematologica, 2007

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels.

Percy MJ et al.

Haematologica, 2007

Myeloproliferative neoplasms and the JAK/STAT signaling pathway: an overview.

de Freitas RM et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

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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."