Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.I787_F788delFs
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PMS2

NM_000535.7:p.I787_F788delFs

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.

Kaushik V et al.

Advanced Genetics (hoboken, N.j.), 2021

36618447 (PubMed )
Supplement: GGN2-2-e10039-s001.zip › Google_Scholar_and_Mastermind_Search_Data_-_for_Submission.xlsx › Google_Scholar___Mastermind

Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.

Cadoo KA et al.

Jco Precision Oncology, 2019

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

Johannesma PC et al.

Clinical Genetics, 2011

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Herkert JC et al.

European Journal of Cancer (oxford, England : 1990), 2011

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

Durno CA et al.

The American Journal of Gastroenterology, 2010

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

Ostergaard JR et al.

American Journal of Medical Genetics. Part A, 2005

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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."