Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.L546delFs
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PPM1D

NM_003620.4:p.L546delFs

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

Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations.

Moon I et al.

Annals of Laboratory Medicine, 2023

36281508 (PubMed )
Supplement: alm-43-2-145-supple2.pdf

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

PPM1D in Solid and Hematologic Malignancies: Friend and Foe?

Zhang L et al.

Molecular Cancer Research : Mcr, 2022

Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon.

Burocziova M et al.

Cell Death & Disease, 2019

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

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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."