Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 9(43), p. 1299-1313, 2022
DOI: 10.1002/humu.24414
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Journal article published in 2022 by
Marcello Scala 
,
Nathalie Drouot,
Suzanna C. MacLennan ,
Marja W. Wessels,
Magdalena Krygier ,
Lisa Pavinato ,
Aida Telegrafi,
Stella A. de Man ,
Marjon van Slegtenhorst,
Michele Iacomino,
Francesca Madia,
Paolo Scudieri,
Paolo Uva ,
Thea Giacomini,
Giulia Nobile
and other authors.
,
Nathalie Drouot,
Suzanna C. MacLennan ,
Marja W. Wessels,
Magdalena Krygier ,
Lisa Pavinato ,
Aida Telegrafi,
Stella A. de Man ,
Marjon van Slegtenhorst,
Michele Iacomino,
Francesca Madia,
Paolo Scudieri,
Paolo Uva ,
Thea Giacomini,
Giulia Nobile
and other authors.
This paper is made freely available by the publisher.
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