Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.L166P
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PMS2

NM_000535.7:p.L166P

Associated Papers

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.

Trendowski MR et al.

Jco Precision Oncology, 2022

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Eygelaar D et al.

Scientific Reports, 2022

35039564 (PubMed )
Supplement: 41598_2022_4791_MOESM8_ESM.xlsx › Sheet_1

Rare germline mutations in African American men diagnosed with early-onset prostate cancer.

Beebe-Dimmer JL et al.

The Prostate, 2018

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

Mauer CB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

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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."