The cognitive and behavioral phenotypes of individuals with CHRNA7 duplications

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the p...

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Detalhes bibliográficos
Publicado no:J Autism Dev Disord
Main Authors: Gillentine, MA, Berry, LN, Goin-Kochel, RP, Ali, MA, Ge, J, Guffey, D, Rosenfeld, JA, Hannig, V, Bader, P, Proud, M, Shinawi, M, Graham, BH, Lin, A, Lalani, SR, Reynolds, J, Chen, M, Grebe, T, Minard, CG, Stankiewicz, P, Beaudet, AL, Schaaf, CP
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5443344/
https://ncbi.nlm.nih.gov/pubmed/27853923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10803-016-2961-8
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