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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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
Idioma:Inglês
Publicado em: Elsevier 2018
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Article
Acesso em linha: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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