Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S418F
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PMS2

NM_000535.7:p.S418F

Associated Papers

Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.

Liccardo R et al.

International Journal of Molecular Medicine, 2022

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_

NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas.

Peterson C et al.

International Journal of Molecular Sciences, 2021

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Germani A et al.

Journal of Clinical Medicine, 2020

32957588 (PubMed )
Supplement: jcm-09-03003-s001.pdf

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
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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."