Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

BACKGROUND: Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities at the “whole body” level. However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype are much less investigated. M...

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Detalles Bibliográficos
Autores principales: Wen, Jiadi, Lopes, Fátima, Soares, Gabriela, Farrell, Sandra A, Nelson, Cara, Qiao, Ying, Martell, Sally, Badukke, Chansonette, Bessa, Carlos, Ylstra, Bauke, Lewis, Suzanne, Isoherranen, Nina, Maciel, Patricia, Rajcan-Separovic, Evica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710273/
https://www.ncbi.nlm.nih.gov/pubmed/23837398
http://dx.doi.org/10.1186/1750-1172-8-100

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