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Clin Genet. 2014 Dec;86(6):595-7. doi: 10.1111/cge.12333. Epub 2014 Jan 26.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

Author information

1
Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology, Physiology and Pediatrics, Medical School, University of Zaragoza, Zaragoza, Spain.
PMID:
24635725
DOI:
10.1111/cge.12333
[Indexed for MEDLINE]

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