Benke, Kálmán; Ágg, Bence; Meienberg, J; Kopps, AM; Fattorini, N; Stengl, R; Daradics, N; Pólos, Miklós; Bors, András; Radovits, Tamás; Merkely, Béla; De Backer, J; Szabolcs, Zoltán; Matyas, G
(2018)
Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate ...