De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

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 {%raw%}@article{kury2017novo,
  title = {De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder},
  author = {K{\"u}ry, S{\'e}bastien and Besnard, Thomas and Ebstein, Fr{\'e}d{\'e}ric and Khan, Tahir N and Gambin, Tomasz and Douglas, Jessica and Bacino, Carlos A and Craigen, William J and Sanders, Stephan J and Lehmann, Andrea and others},
  journal = {The American Journal of Human Genetics},
  volume = {100},
  number = {2},
  pages = {352--363},
  year = {2017},
  publisher = {Cell Press},
  public = {yes}
}
{%endraw%}