Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders

Readily-accessible and standardised capture of genotypic variation has revolutionised our understanding of the genetic contribution to disease. Unfortunately, the corresponding systematic capture of patient phenotypic variation needed to fully interpret the impact of genetic variation has lagged far...

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Publicat a:PLoS Genet
Autors principals: Andrews, Tallulah, Meader, Stephen, Vulto-van Silfhout, Anneke, Taylor, Avigail, Steinberg, Julia, Hehir-Kwa, Jayne, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B. A., Webber, Caleb
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4362763/
https://ncbi.nlm.nih.gov/pubmed/25781962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005012
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