Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.
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| Title: | Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy. |
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| Authors: | Verbinnen I; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium., Procknow SS; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, United States., Lenaerts L; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Reynhout S; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium., Mehregan A; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Ulens C; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Janssens V; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium., King KA; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, United States. |
| Source: | Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Nov 30; Vol. 10, pp. 1059938. Date of Electronic Publication: 2022 Nov 30 (Print Publication: 2022). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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