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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...

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Detalles Bibliográficos
Autores principales: Kansikas, Minttu, Kariola, Reetta, Nyström, Minna
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
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