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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362763/
https://www.ncbi.nlm.nih.gov/pubmed/25781962
http://dx.doi.org/10.1371/journal.pgen.1005012

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