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

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Bibliographic Details
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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