Result: De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2022

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

Human mutation. - 43, 9 (2022) , 1299-1313, ISSN: 1098-1004

*DOI*:

10.1002/humu.24414

*Result*: De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes