Articles with "subunit psmd12" as a keyword



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

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Published in 2017 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2017.03.003

Abstract: HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad,… read more here.

Keywords: novo disruption; disruption proteasome; subunit psmd12; proteasome regulatory ... See more keywords