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. |
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| 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 |
| ISSN: | 2949-7744 |
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| DOI: | 10.1016/j.gimo.2024.101815 |
