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De Novo Frameshift Variants in the Neuronal Splicing Factor..:

Mattioli, Francesca ; Hayot, Gaelle ; Drouot, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2020.02.013. , 2020

Link: https://hal.science/hal-03339508

RT Journal
T1 <Title>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</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftsupagro:oai:HAL:hal-03339508v1&Exemplar=1&LAN=DE
				
A1 Mattioli, Francesca
A1 Hayot, Gaelle
A1 Drouot, Nathalie
A1 Isidor, Bertrand
A1 Courraud, Jérémie
A1 Hinckelmann, Maria-Victoria
A1 Mau-Them, Frederic Tran
A1 Sellier, Chantal
A1 Goldman, Alica
A1 Telegrafi, Aida
A1 Boughton, Alicia
A1 Gamble, Candace
A1 Moutton, Sebastien
A1 Quartier, Angélique
A1 Jean, Nolwenn
A1 van Ness, Paul
A1 Grotto, Sarah
A1 Nambot, Sophie
A1 Douglas, Ganka
A1 Si, Yue Cindy
A1 Chelly, Jamel
A1 Shad, Zohra
A1 Kaplan, Elisabeth
A1 Dineen, Richard
A1 Golzio, Christelle
A1 Charlet-Berguerand, Nicolas
A1 Mandel, Jean-Louis
A1 Piton, Amélie
PB HAL CCSD; Elsevier (Cell Press)
YR 2020
K1 C-terminal part
K1 KH domains
K1 NOVA2
K1 alternative splicing
K1 autism
K1 de novo mutations
K1 intellectual disability
K1 [SDV]Life Sciences [q-bio]
JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2020.02.013
LK http://dx.doi.org/https://hal.science/hal-03339508
DO https://hal.science/hal-03339508
SF ELIB - SuUB Bremen

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