Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which has been identified through sequencing. Recent data have suggested that copy-number variants (CNVs) also contribute to BBS. We used a custom oligonucleotide array compar...

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Publicado no:Am J Hum Genet
Main Authors: Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974085/
https://ncbi.nlm.nih.gov/pubmed/27486776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.023
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