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Direct long-read visualization reveals hidden variation in GCH1 gene copy number and precise expansion steps.

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Title: Direct long-read visualization reveals hidden variation in GCH1 gene copy number and precise expansion steps.
Authors: Liu S; Department of Biology, University of Virginia, Charlottesville, VA, USA.; Indiana University School of Medicine, Indianapolis, IN, USA., Zulawinska J; Department of Biology, University of Virginia, Charlottesville, VA, USA., Ebel ER; Departments of Pediatrics and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA., Luniewski A; Department of Biology, University of Virginia, Charlottesville, VA, USA., Danis C; Department of Biology, University of Virginia, Charlottesville, VA, USA., Simpson ML; Department of Biology, University of Virginia, Charlottesville, VA, USA., Kim J; Department of Biology, University of Virginia, Charlottesville, VA, USA., Ene N; Department of Biology, University of Virginia, Charlottesville, VA, USA., Braukmann TWA; Departments of Pathology and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA., Congdon M; Department of Chemistry, Virginia Tech, Blacksburg, VA, USA., Santos W; Department of Chemistry, Virginia Tech, Blacksburg, VA, USA., Yeh E; Departments of Pathology and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA., Guler JL; Department of Biology, University of Virginia, Charlottesville, VA, USA. jlg5fw@virginia.edu.
Source: BMC genomics [BMC Genomics] 2025 Jul 17; Vol. 26 (1), pp. 671. Date of Electronic Publication: 2025 Jul 17.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Direct long-read visualization reveals hidden variation in GCH1 gene copy number and precise expansion steps.
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  Data: <searchLink fieldCode="AU" term="%22Liu+S%22">Liu S</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA.; Indiana University School of Medicine, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Zulawinska+J%22">Zulawinska J</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Ebel+ER%22">Ebel ER</searchLink>; Departments of Pediatrics and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Luniewski+A%22">Luniewski A</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Danis+C%22">Danis C</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Simpson+ML%22">Simpson ML</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Ene+N%22">Ene N</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Braukmann+TWA%22">Braukmann TWA</searchLink>; Departments of Pathology and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Congdon+M%22">Congdon M</searchLink>; Department of Chemistry, Virginia Tech, Blacksburg, VA, USA.<br /><searchLink fieldCode="AU" term="%22Santos+W%22">Santos W</searchLink>; Department of Chemistry, Virginia Tech, Blacksburg, VA, USA.<br /><searchLink fieldCode="AU" term="%22Yeh+E%22">Yeh E</searchLink>; Departments of Pathology and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Guler+JL%22">Guler JL</searchLink>; Department of Biology, University of Virginia, Charlottesville, VA, USA. jlg5fw@virginia.edu.
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  Data: <searchLink fieldCode="JN" term="%22100965258%22">BMC genomics</searchLink> [BMC Genomics] 2025 Jul 17; Vol. 26 (1), pp. 671. <i>Date of Electronic Publication: </i>2025 Jul 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100965258 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2164 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712164%22">14712164 </searchLink><i>NLM ISO Abbreviation: </i>BMC Genomics <i>Subsets: </i>MEDLINE
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