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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, André; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M C; Haack, Tobias B; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane.
Hum Mol Genet ; 31(3): 440-454, 2022 02 03.
Article in En | MEDLINE | ID: mdl-34505148
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: F-Box Proteins / Neurodevelopmental Disorders / Intellectual Disability Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mol Genet Year: 2022 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: F-Box Proteins / Neurodevelopmental Disorders / Intellectual Disability Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mol Genet Year: 2022 Document type: Article