Associated Papers
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
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
37021934 (PubMed )
Supplement: btad179_supplementary_data.zip › SAI10kcalc_supp_tables_final.xlsx › S1.variants
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MLH1
Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.
Mittal A et al.
Ecancermedicalscience, 2022
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
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_9._Validated_Variantsv2.xlsx › Supplementary_Table_9
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I et al.
Human Mutation, 2008
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