1. Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays 
Lucia Pérez-Cabornero, Mar Infante, Eladio Velasco, Enrique Lastra, Cristina Miner, Mercedes Durán 
The Journal of Molecular Diagnostics 
Volume 15, Issue 3, Pages (May 2013)
DOI: /j.jmoldx
Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2. Figure 1
Schematic illustration of MLH1 (A), MSH2 (B), and MSH6 (C), showing the main known functional domains and location of the studied coding variations. aa, amino acids.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3. Figure 2
Altered splicing that produces the complete exclusion of exon 15 of MSH2 c.2634 G>A. A: Exon skipping as predicted by NNSplice; the primers in MSH2 exons 14 and 16 were used to amplify cDNA from an individual with the missense change. B: RT-PCR products are shown with the normal and the deleted transcript; the sequence that supports fusion between exons 14 and 16 of MSH2 is included.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions