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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes
Present guidelines for classification of constitutional variants do not incorporate inferences from mutations seen in tumors, even when these are associated with a specific molecular phenotype. When somatic mutations and constitutional mutations lead to the same molecular phenotype, as for the misma...
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| Publicat a: | Am J Hum Genet |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6035155/ https://ncbi.nlm.nih.gov/pubmed/29887214 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.05.001 |
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