Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.I590V
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PMS2

NM_000535.7:p.I590V

Associated Papers

Endometrial carcinomas with ambiguous histology often harbor TP53 mutations.

Davidson B et al.

Virchows Archiv : an International Journal of Pathology, 2025

39235515 (PubMed )
Supplement: 428_2024_3912_MOESM1_ESM.xlsx › Mutation_list

Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.

Rayner E et al.

Human Mutation, 2022

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test
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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."