Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.K690Q
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PMS2

NM_000535.7:p.K690Q

Associated Papers

PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.

Sjursen W et al.

Hereditary Cancer in Clinical Practice, 2024

39334433 (PubMed )
Supplement: 13053_2024_292_MOESM1_ESM.pdf

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s002.xlsx › Supp_Table_5

PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.

Bouras A et al.

Genes, Chromosomes & Cancer, 2024

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.

Abdel-Razeq H et al.

Frontiers in Oncology, 2022

NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.

Zanti M et al.

Cancers, 2020

33120919 (PubMed )
Supplement: cancers-12-03140-s001.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."