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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Tallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, Avigail Taylor, Julia Steinberg, Jayne Hehir-Kwa, Rolph Pfundt, Nicole de Leeuw, Bert B A de Vries, Caleb Webber
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Public Library of Science (PLoS) 2015-03-01
Σειρά:	PLoS Genetics
Διαθέσιμο Online:	https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1005012&type=printable
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