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Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

Intellectual disability (ID) disorders are genetically and phenotypically extremely heterogeneous. Can this complexity be depicted in a comprehensive way as a means of facilitating the understanding of ID disorders and their underlying biology? We provide a curated database of 746 currently known ge...

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Publicat a:Am J Hum Genet
Autors principals: Kochinke, Korinna, Zweier, Christiane, Nijhof, Bonnie, Fenckova, Michaela, Cizek, Pavel, Honti, Frank, Keerthikumar, Shivakumar, Oortveld, Merel A.W., Kleefstra, Tjitske, Kramer, Jamie M., Webber, Caleb, Huynen, Martijn A., Schenck, Annette
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4716705/
https://ncbi.nlm.nih.gov/pubmed/26748517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.11.024
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