@article{braunholz:hal-01064574,
TITLE = {Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics},
AUTHOR = {Braunholz, Diana and Obieglo, Carolin and Parenti, Ilaria and Pozojevic, Jelena and Eckhold, Juliane and Reiz, Benedikt and Braenne, Ingrid and Wendt, Kerstin S. and Watrin, Erwan and Vodopiutz, Julia and Rieder, Harald and Gillessen-Kaesbach, Gabriele and Kaiser, Frank J.},
URL = {https://hal.science/hal-01064574},
JOURNAL = {Human Mutation},
PUBLISHER = {Wiley},
VOLUME = {36},
NUMBER = {1},
PAGES = {26-29},
YEAR = {2015},
MONTH = Jan, DOI = {10.1002/humu.22685},
KEYWORDS = {mosaic ; CdLS ; panel sequencing ; NIPBL ; cohesin},
HAL_ID = {hal-01064574},
HAL_VERSION = {v1},
}