somatic mutation

Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome
Rachel Pearlman, Sigurdis Haraldsdottir, Albert de la Chapelle, Jon G Jonasson, Sandya Liyanarachchi, Wendy L Frankel, Thorunn Rafnar, Kari Stefansson, Colin C Pritchard, Heather Hampel

Journal of Medical Genetics Jul 2019, 56 (7) 462-470; DOI: 10.1136/jmedgenet-2018-105698
Somatic point mutations occurring early in development: a monozygotic twin study
Rui Li, Alexandre Montpetit, Marylène Rousseau, Si Yu Margaret Wu, Celia M T Greenwood, Timothy D Spector, Michael Pollak, Constantin Polychronakos, J Brent Richards

Journal of Medical Genetics Jan 2014, 51 (1) 28-34; DOI: 10.1136/jmedgenet-2013-101712
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1
David W Sant, Rebecca L Margraf, David A Stevenson, Allie H Grossmann, David H Viskochil, Heather Hanson, Melanie D Everitt, Jonathan J Rios, Florent Elefteriou, Theresa Hennessey, Rong Mao

Journal of Medical Genetics Apr 2015, 52 (4) 256-261; DOI: 10.1136/jmedgenet-2014-102815

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