Interpretation of Genomic Copy Number Variants Using DECIPHER
Author:
Affiliation:
1. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambridge United Kingdom
2. Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital Cambridge United Kingdom
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/0471142905.hg0814s72
Reference16 articles.
1. A database of genetically determined neurological conditions for clinicians;Baraitser M.;J. Neurol. Neurosurg. Psychiatry,1989
2. The HGNC Database in 2008: a resource for the human genome
3. Origins and functional impact of copy number variation in the human genome
4. A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
5. The Deciphering Developmental Disorders (DDD) study
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