Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.L450fs
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PPM1D

NM_003620.4:p.L450fs

Associated Papers

Gain of chromosome 17 is an early genetic abnormality in neuroblastoma with PPM1D emerging as a strong candidate oncogene driving tumor progression.

Milosevic J et al.

Cancer Letters, 2025

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

Low-Frequency PPM1D Gene Mutations Affect Treatment Response to CD19-Targeted CAR T-Cell Therapy in Large B-Cell Lymphoma.

Seipel K et al.

Current Oncology (toronto, Ont.), 2023

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.

Balciuniene J et al.

Jama Network Open, 2023

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

PPM1D in Solid and Hematologic Malignancies: Friend and Foe?

Zhang L et al.

Molecular Cancer Research : Mcr, 2022

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_7.xlsx › Table_S7

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM5_ESM.xlsx › Sheet1
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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."