Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S405*
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PMS2

NM_000535.7:p.S405*

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Supplementary_Figure_1

POLE Mutation Associated With Microsatellite Instability and High Tumor Mutational Burden Confers Exquisite Sensitivity to Immune Checkpoint Inhibitor Therapy in Non-Small Cell Lung Cancer: A Case Report and Genomic Database Analysis.

Lara MS et al.

Clinical Lung Cancer, 2025

Transformation or tumor heterogeneity: Mutations in EGFR, SOX2, TP53, and RB1 persist in the histological rapid conversion from lung adenocarcinoma to small-cell lung cancer.

Hao L et al.

Thoracic Cancer, 2023

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Stoltze UK et al.

Genome Medicine, 2023

36918911 (PubMed )
Supplement: 13073_2023_1167_MOESM2_ESM.xlsx › Table_S4_LoFP_variants

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

van der Klift HM et al.

Human Mutation, 2016

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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."