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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays
With the discovery that the hereditary cancer susceptibility disease Lynch syndrome (LS) is caused by deleterious germline mutations in the DNA mismatch repair (MMR) genes nearly 20 years ago, genetic testing can now be used to diagnose this disorder in patients. A definitive diagnosis of LS can dir...
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| Asıl Yazarlar: | , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2012
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3434035/ https://ncbi.nlm.nih.gov/pubmed/22824075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1897-4287-10-9 |
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