Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.R315Q
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PMS2

NM_000535.7:p.R315Q

Associated Papers

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B

Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.

AlHarbi M et al.

Oncotarget, 2023

37306523 (PubMed )
Supplement: oncotarget-14-28457-s002.xlsx › Table_S3

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2

Inflammatory Pseudotumor-Like Follicular/Fibroblastic Dendritic Cell Sarcomas of the Spleen Are EBV-Associated and Lack Other Commonly Identifiable Molecular Alterations.

Bruehl FK et al.

International Journal of Surgical Pathology, 2021

Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Nikitin AG et al.

Frontiers in Oncology, 2020

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Maxwell KN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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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."