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ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.

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Title: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.
Authors: Cameron JM; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Osundiji MA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Olson RJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Olarewaju BA; School of Science and Engineering, University of Dundee, Dundee, United Kingdom., Schulze A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
Source: Genetics in medicine open [Genet Med Open] 2024 Jan 23; Vol. 2, pp. 101815. Date of Electronic Publication: 2024 Jan 23 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Cameron+JM%22">Cameron JM</searchLink>; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Osundiji+MA%22">Osundiji MA</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Olson+RJ%22">Olson RJ</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Olarewaju+BA%22">Olarewaju BA</searchLink>; School of Science and Engineering, University of Dundee, Dundee, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Schulze+A%22">Schulze A</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
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  Data: <searchLink fieldCode="JN" term="%229918734281906676%22">Genetics in medicine open</searchLink> [Genet Med Open] 2024 Jan 23; Vol. 2, pp. 101815. <i>Date of Electronic Publication: </i>2024 Jan 23 (<i>Print Publication: </i>2024).
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