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Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Title: Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
Authors: Scala M; Torella A; Severino M; Morana G; Castello R; Accogli A; Verrico A; Vari MS; Cappuccio G; Pinelli M; Vitiello G; Terrone G; D'Amico A; TUDP consortium; Nigro V; Capra V.
Contributors: Scala M; Torella A; Severino M; Morana G; Castello R; Accogli A; Verrico A; Vari MS; Cappuccio G; Pinelli M; Vitiello G; Terrone G; D'Amico A; TUDP consortium; Nigro V; Capra V.
Publication Year: 2019
Collection: Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto)
Document Type: article in journal/newspaper
Language: English
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000474847300012; volume:27; firstpage:1254; lastpage:1259; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2318/1752330; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063794553
DOI: 10.1038/s41431-019-0392-7
Availability: http://hdl.handle.net/2318/1752330; https://doi.org/10.1038/s41431-019-0392-7
Rights: info:eu-repo/semantics/closedAccess
Accession Number: edsbas.DE21E64B
Database: BASE