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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Vydáno v:Am J Hum Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018
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Article
On-line přístup: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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