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A novel IRF2BPL truncating variant is associated with endolysosomal storage.

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Title: A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Authors: Ginevrino M; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy., Battini R; IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Nuovo S; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.; Department of Medicine and Surgery, University of Salerno, Salerno, Italy., Simonati A; Department of Neuroscience, Biomedicine, Movement-Neurology (Child Neurology and Psychiatry, and Neuropathology), University of Verona, Verona, Italy., Micalizzi A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Contaldo I; Unit of Child Neurology, IRCCS Policlinico Gemelli Foundation, Catholic University, Rome, Italy., Serpieri V; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy. enzamaria.valente@unipv.it.; IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it.
Source: Molecular biology reports [Mol Biol Rep] 2020 Jan; Vol. 47 (1), pp. 711-714. Date of Electronic Publication: 2019 Oct 03.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel IRF2BPL truncating variant is associated with endolysosomal storage.
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  Data: <searchLink fieldCode="AU" term="%22Ginevrino+M%22">Ginevrino M</searchLink>; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Battini+R%22">Battini R</searchLink>; IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Nuovo+S%22">Nuovo S</searchLink>; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.<br /><searchLink fieldCode="AU" term="%22Simonati+A%22">Simonati A</searchLink>; Department of Neuroscience, Biomedicine, Movement-Neurology (Child Neurology and Psychiatry, and Neuropathology), University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Micalizzi+A%22">Micalizzi A</searchLink>; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Contaldo+I%22">Contaldo I</searchLink>; Unit of Child Neurology, IRCCS Policlinico Gemelli Foundation, Catholic University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy. enzamaria.valente@unipv.it.; IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it.
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  Data: <searchLink fieldCode="JN" term="%220403234%22">Molecular biology reports</searchLink> [Mol Biol Rep] 2020 Jan; Vol. 47 (1), pp. 711-714. <i>Date of Electronic Publication: </i>2019 Oct 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Reidel%22">Reidel </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>0403234 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-4978 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203014851%22">03014851 </searchLink><i>NLM ISO Abbreviation: </i>Mol Biol Rep <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s11033-019-05109-7
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      – TitleFull: A novel IRF2BPL truncating variant is associated with endolysosomal storage.
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              Text: 2020 Jan
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