Two commonly reported incidental variants in OTC are associated with late-onset disease.

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Title: Two commonly reported incidental variants in OTC are associated with late-onset disease.
Authors: Lang SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Lo RS; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Cromie GA; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Dudley AM; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Mew NA; Center for Precision Medicine and Genomic Research, Children's National Hospital, Washington, DC 20012, USA., Simpson K; Children's National Rare Disease Institute, Children's National Hospital, Washington, DC 20012, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Darilek S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Ali S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Snyder MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: nagamani@bcm.edu., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: burrage@bcm.edu.
Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100531. Date of Electronic Publication: 2025 Oct 16.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2666-2477
DOI:10.1016/j.xhgg.2025.100531