Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.K413fs
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PMS2

NM_000535.7:p.K413fs

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Determinants of Response and Intrinsic Resistance to PD-1 Blockade in Microsatellite Instability-High Gastric Cancer.

Kwon M et al.

Cancer Discovery, 2021

33846173 (PubMed )
Supplement: 21598290cd210219-sup-260791_2_supp_7030638_qqzrs3.xlsx › MMR-related

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

31659152 (PubMed )
Supplement: 41419_2019_2057_MOESM5_ESM.xlsx › List1

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s005.zip › Initial_Benchmark › CharGer_and_Panel_Benchmark.xlsx › SupplTable2

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

The neoepitope landscape in pediatric cancers.

Chang TC et al.

Genome Medicine, 2017

28854978 (PubMed )
Supplement: 13073_2017_468_MOESM3_ESM.xlsx › ST3-mutation_signature

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Wu G et al.

Nature Genetics, 2014

24705251 (PubMed )
Supplement: NIHMS573627-supplement-1.pdf

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Vaughn CP et al.

Human Mutation, 2010

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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."