Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.I496V
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PPM1D

NM_003620.4:p.I496V

Associated Papers

Working title: Molecular involvement of p53-MDM2 interactome in gastrointestinal cancers.

Yedla P et al.

Cell Biochemistry and Function, 2024

Truncating and missense PPM1D mutations in early-onset and/or familial/hereditary prostate cancer patients.

Cardoso M et al.

Genes, Chromosomes & Cancer, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1396.504

Genetic variants and mutations of PPM1D control the response to DNA damage.

Dudgeon C et al.

Cell Cycle (georgetown, Tex.), 2013

Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint.

Kleiblova P et al.

The Journal of Cell Biology, 2013

23649806 (PubMed )
Supplement: supp_jcb.201210031_JCB_201210031_sm.pdf
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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."