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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Hum Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2018
Pynciau:
Article
Mynediad Ar-lein: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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