De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder-Reference-Cited by-同舟云学术

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Published:2020-04 Issue:4 Volume:106 Page:438-452
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mattioli Francesca,Hayot Gaelle,Drouot Nathalie,Isidor Bertrand,Courraud Jérémie,Hinckelmann Maria-Victoria,Mau-Them Frederic Tran,Sellier Chantal,Goldman Alica,Telegrafi Aida,Boughton Alicia,Gamble Candace,Moutton Sebastien,Quartier Angélique,Jean Nolwenn,Van Ness Paul,Grotto Sarah,Nambot Sophie,Douglas Ganka,Si Yue Cindy,Chelly Jamel,Shad Zohra,Kaplan Elisabeth,Dineen Richard,Golzio Christelle,Charlet-Berguerand Nicolas,Mandel Jean-Louis,Piton Amélie

Funder

Fondation Jerome Lejeune

Fondation Maladies Rares

Fondattion APLM

Agence Nationale de la Recherche

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference41 articles.

1. Nova regulates brain-specific splicing to shape the synapse;Ule;Nat. Genet.,2005

2. Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability;Jensen;Neuron,2000