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Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.

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Title: Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.
Authors: Montini M; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Bonacchi L; Department of Information Engineering, University of Florence, Florence, Italy., Sidoti D; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Cuccoli S; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Pantaleo M; Division of Medical Genetics, Meyer Childrens' Hospital IRCCS, Firenze, Italy., Peron A; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.; Division of Medical Genetics, Meyer Childrens' Hospital IRCCS, Firenze, Italy., Scuffi I; Department of Health Sciences, Clinical Pharmacology and Oncology Section, University of Florence, Florence, Italy., DosSantos MF; Instituto de Ciências Biológicas (ICB), Institute of Biological Sciences, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil., Nassini R; Department of Health Sciences, Clinical Pharmacology and Oncology Section, University of Florence, Florence, Italy., De Logu F; Department of Health Sciences, Clinical Pharmacology and Oncology Section, University of Florence, Florence, Italy. francescodelogu@unifi.it., Papi L; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy. laura.papi@unifi.it.
Source: Scientific reports [Sci Rep] 2025 Dec 01; Vol. 16 (1), pp. 549. Date of Electronic Publication: 2025 Dec 01.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.
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  Data: <searchLink fieldCode="AU" term="%22Montini+M%22">Montini M</searchLink>; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Bonacchi+L%22">Bonacchi L</searchLink>; Department of Information Engineering, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Sidoti+D%22">Sidoti D</searchLink>; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Cuccoli+S%22">Cuccoli S</searchLink>; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Pantaleo+M%22">Pantaleo M</searchLink>; Division of Medical Genetics, Meyer Childrens' Hospital IRCCS, Firenze, Italy.<br /><searchLink fieldCode="AU" term="%22Peron+A%22">Peron A</searchLink>; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.; Division of Medical Genetics, Meyer Childrens' Hospital IRCCS, Firenze, Italy.<br /><searchLink fieldCode="AU" term="%22Scuffi+I%22">Scuffi I</searchLink>; Department of Health Sciences, Clinical Pharmacology and Oncology Section, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22DosSantos+MF%22">DosSantos MF</searchLink>; Instituto de Ciências Biológicas (ICB), Institute of Biological Sciences, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.<br /><searchLink fieldCode="AU" term="%22Nassini+R%22">Nassini R</searchLink>; Department of Health Sciences, Clinical Pharmacology and Oncology Section, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22De+Logu+F%22">De Logu F</searchLink>; Department of Health Sciences, Clinical Pharmacology and Oncology Section, University of Florence, Florence, Italy. francescodelogu@unifi.it.<br /><searchLink fieldCode="AU" term="%22Papi+L%22">Papi L</searchLink>; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy. laura.papi@unifi.it.
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  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2025 Dec 01; Vol. 16 (1), pp. 549. <i>Date of Electronic Publication: </i>2025 Dec 01.
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              Text: 2025 Dec 01
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