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Verification of the Three-Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants
In order to assess whether variations affecting DNA mismatch repair (MMR) genes are pathogenic and hence predisposing to Lynch syndrome (LS), a three-step assessment model has been proposed. Where LS is suspected based on family history, STEP1 is dedicated to the identification of the causative MMR...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058133/ https://www.ncbi.nlm.nih.gov/pubmed/21120944 http://dx.doi.org/10.1002/humu.21409 |