Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.V501A
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MPL

NM_005373.3:p.V501A

Associated Papers

CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing.

Mroczkowska-Bękarciak A et al.

Journal of Applied Genetics, 2026

Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.

Tønne Nesse AS et al.

Expert Review of Hematology, 2025

Clinical laboratory characteristics and gene mutation spectrum of Ph-negative MPN patients with atypical variants of JAK2, MPL, or CALR.

Wang Z et al.

Cancer Medicine, 2024

Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.

Borsani O et al.

Experimental Hematology, 2024

Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.

Morishita S et al.

International Journal of Molecular Sciences, 2023

37629188 (PubMed )
Supplement: ijms-24-13008-s001.zip › ijms-2555672-supplementary.pdf

Additional Genetic Alterations and Clonal Evolution of MPNs with Double Mutations on the MPL Gene: Two Case Reports.

Pennisi MS et al.

Hematology Reports, 2023

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Luque Paz D et al.

Blood, 2023

Effects of calreticulin mutations on cell transformation and immunity.

Desikan H et al.

Journal of Cellular and Molecular Medicine, 2023

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Stockklausner C et al.

Annals of Hematology, 2021

MPL exon 10 mutations other than canonical MPL W515L/K mutations identified by in-house MPL exon 10 direct sequencing in essential thrombocythemia.

Sugimoto Y et al.

International Journal of Hematology, 2021

Philadelphia+ Chronic Myeloid Leukemia with CALR Mutation: A Case Report and Literature Review.

Yoon SY et al.

Cancer Research and Treatment, 2020

Novel drivers and modifiers of MPL-dependent oncogenic transformation identified by deep mutational scanning.

Bridgford JL et al.

Blood, 2020

The S505A thrombopoietin receptor mutation in childhood hereditary thrombocytosis and essential thrombocythemia is S505N: single letter amino acid code matters.

Defour JP et al.

Leukemia, 2019

Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

Rumi E et al.

Blood, 2017

Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia.

Usseglio F et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation.

Magor GW et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Molecular Pathogenesis and Clinical Significance of Driver Mutations in Primary Myelofibrosis: A Review.

Alshemmari SH et al.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2016

Molecular diagnostics of myeloproliferative neoplasms.

Langabeer SE et al.

European Journal of Haematology, 2015

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

Detection of MPL mutations by a novel allele-specific PCR-based strategy.

Furtado LV et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.

Rumi E et al.

Blood, 2013

Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.

Pietra D et al.

Haematologica, 2011

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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."