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. |
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| 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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