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- Title:
Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
- Document type:
- Letter; Research Support, Non-U.S. Gov't; Letter
- Author(s):
- Baquero-Montoya, C; Gil-Rodríguez, M C; Braunholz, D; Teresa-Rodrigo, M E; Obieglo, C; Gener, B; Schwarzmayr, T; Strom, T M; Gómez-Puertas, P; Puisac, B; Gillessen-Kaesbach, G; Musio, A; Ramos, F J; Kaiser, F J; Pié, J
- Journal title abbreviation:
- Clin Genet
- Year:
- 2014
- Journal volume:
- 86
- Journal issue:
- 6
- Pages contribution:
- 595-7
- Language:
- eng
- Fulltext / DOI:
- doi:10.1111/cge.12333
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/24635725
- Print-ISSN:
- 0009-9163
- TUM Institution:
- Institut für Humangenetik
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