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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
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International Journal of Molecular Sciences, 2021
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
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Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
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Patterns and functional implications of rare germline variants across 12 cancer types.
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Nature Communications, 2015
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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H et al.
Journal of Biomedical Science, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software.
Colley J et al.
Human Mutation, 2005
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