De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder - Concepedia

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Publication | Open Access

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

DOI Full Paper Access

107

Citations

46

References

2017

Year

Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann,

The American Journal of Human Genetics

Molecular NeuroscienceDevelopmental BiologyDe Novo DisruptionSyndromic Neurodevelopmental DisorderMedicineProteasomeDegenerative PathologyNeurochemical BiomarkersProtein MisfoldingNeuroscienceMolecular NeurobiologyNeuropathologyProteomicsSocial SciencesNeurogenetics

References

	Year	Citations

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