Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R27W
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MLH1

NM_000249.4:p.R27W

Associated Papers

Pitfalls in MLH1 promoter methylation assessment, including POLEmut/MLH1meth endometrial adenocarcinoma.

Flaus A et al.

Pathology, Research and Practice, 2026

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.

Tam B et al.

International Journal of Molecular Sciences, 2024

38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning.

Grønning AGB et al.

Nucleic Acids Research, 2020

32558887 (PubMed )
Supplement: gkaa530_supplemental_files.zip › Supplementary_tables.xlsx › Table_S6

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s002.xlsx › VUS_with_high_level_of_evidence

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

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