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Adult Neuropsychiatric Expression and Familial Segregation of 2q13 Duplications

New genomic disorders associated with large, rare, recurrent copy number variations (CNVs) are being discovered at a rapid pace. Detailed phenotyping and family studies are rare, however, as are data on adult phenotypic expression. Duplications at 2q13 were recently identified as risk factors for de...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet B Neuropsychiatr Genet
Egile Nagusiak: Costain, Gregory, Lionel, Anath C., Fu, Fiona, Stavropoulos, Dimitri J., Gazzellone, Matthew J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4464821/
https://ncbi.nlm.nih.gov/pubmed/24807792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32236
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