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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
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  Data: Two commonly reported incidental variants in OTC are associated with late-onset disease.
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  Data: <searchLink fieldCode="AU" term="%22Lang+SH%22">Lang SH</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Lo+RS%22">Lo RS</searchLink>; Pacific Northwest Research Institute, Seattle, WA 98122, USA.<br /><searchLink fieldCode="AU" term="%22Cromie+GA%22">Cromie GA</searchLink>; Pacific Northwest Research Institute, Seattle, WA 98122, USA.<br /><searchLink fieldCode="AU" term="%22Dudley+AM%22">Dudley AM</searchLink>; Pacific Northwest Research Institute, Seattle, WA 98122, USA.<br /><searchLink fieldCode="AU" term="%22Mew+NA%22">Mew NA</searchLink>; Center for Precision Medicine and Genomic Research, Children's National Hospital, Washington, DC 20012, USA.<br /><searchLink fieldCode="AU" term="%22Simpson+K%22">Simpson K</searchLink>; Children's National Rare Disease Institute, Children's National Hospital, Washington, DC 20012, USA.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Darilek+S%22">Darilek S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Ali+S%22">Ali S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Snyder+MT%22">Snyder MT</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Marom+R%22">Marom R</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Nagamani+SCS%22">Nagamani SCS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101772885%22">HGG advances</searchLink> [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100531. <i>Date of Electronic Publication: </i>2025 Oct 16.
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