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Classifying MMR Variants: Time for Revised Nomenclature in Lynch Syndrome

Inactivating germline mutations in DNA mismatch repair (MMR) genes are diagnostic for Lynch syndrome. However, the clinical significance of missense variants is uncertain. A threshold level of compromised MLH1 expression, correlating with greater protein instability and MMR functional defect, has be...

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Autors principals: You, Y. Nancy, Vilar, Eduardo
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3854938/
https://ncbi.nlm.nih.gov/pubmed/23532885
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/1078-0432.CCR-13-0392
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