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Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization

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Year: 2020
Type: article
Source: Journal of Neurochemistry
DOI: 10.1111/jnc.15215
Authors: Yingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, Carsten Reißner, Kerstin Becker, Bri Dingmann, Ghayda Mirzaa, Anja A. Kattentidt‐Mouravieva, Moneef Shoukier, Shagun Aggarwal, Markus Missler, Kerstin Kutsche, Hans‐Jürgen Kreienkamp
Institutions: University Medical Center Hamburg-Eppendorf, University of Münster, Medical Genetics Center, Seattle Children's Hospital, University of Washington, Brotman Baty Institute, Seattle Children's Research Institute, Zuidwester, Centre for DNA Fingerprinting and Diagnostics
Language: English

Topic: Genetics and Neurodevelopmental Disorders
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Deutsche Forschungsgemeinschaft, National Institute of Neurological Disorders and Stroke
Awards: G156066981, G2786875625, Genes and pathways underlying brain overgrowth and focal cortical malformations, G603265703
OpenAlex ID: W3093056404
FWCI: 2.045
Cites: 53
Cited by: 25
Related to: 10
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