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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Publicado en:Am J Hum Genet
Autores principales: Shirts, Brian H., Konnick, Eric Q., Upham, Sarah, Walsh, Tom, Ranola, John Michael O., Jacobson, Angela L., King, Mary-Claire, Pearlman, Rachel, Hampel, Heather, Pritchard, Colin C.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2018
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Article
Acceso en línea: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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