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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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha: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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