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Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S, Calvo-Ferrer A, Ortega-Unanue N, Samaniego-Jimenez L, Sanz-Izquierdo MP, Bernardo-Gonzalez I. Martin-Rodriguez S, et al. Among authors: sanz izquierdo mp. Ann Hum Genet. 2019 Jul;83(4):266-273. doi: 10.1111/ahg.12312. Epub 2019 Mar 19. Ann Hum Genet. 2019. PMID: 30888062