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Filters: Author is Gambin, Tomasz and Keyword is Genetic Diseases, Inborn [Clear All Filters]
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).