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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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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | 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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