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 › MLH1
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
Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.
Álvarez K et al.
Journal of Clinical Medicine, 2020
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
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_6
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome.
Marqués-Lespier JM et al.
Gastroenterology Research and Practice, 2014
[Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry].
Wielandt AM et al.
Revista Medica De Chile, 2012
[Hereditary non-polyposis colorectal cancer. Report of four siblings].
Zárate A et al.
Revista Medica De Chile, 2008
Select a paper to view details