A Novel Microduplication of ARID1B: Clinical, Genetic and Proteomic Findings

Genetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regul...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Seabra, Catarina M., Szoko, Nicholas, Erdin, Serkan, Ragavendran, Ashok, Stortchevoi, Alexei, Maciel, Patrícia, Lundberg, Kathleen, Schlatzer, Daniela, Smith, Janice, Talkowski, Michael E., Gusella, James F., Natowicz, Marvin R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5561488/
https://ncbi.nlm.nih.gov/pubmed/28691782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38327
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