Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.L484insFs
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PPM1D

NM_003620.4:p.L484insFs

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Paired bone marrow and peripheral blood samples demonstrate lack of widespread dissemination of some CH clones.

Osman AEG et al.

Blood Advances, 2023

36453641 (PubMed )
Supplement: BLOODA_ADV-2022-008521-mmc1.xlsx › g3_alt-new

PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.

Khadka P et al.

Nature Communications, 2022

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K et al.

Cancers, 2020

32295079 (PubMed )
Supplement: cancers-12-00956-s001.pdf

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s006.xlsx › S6
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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."