Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.L484delFs
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PPM1D

NM_003620.4:p.L484delFs

Associated Papers

Olaparib as a rescue treatment in platinum-refractory germ-cell tumors: the IGG-02 phase II trial.

Schepisi G et al.

Esmo Open, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.

Weber-Lassalle K et al.

Human Mutation, 2018

PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

Akbari MR et al.

Journal of the National Cancer Institute, 2014

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

Ruark E et al.

Nature, 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."