Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.
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| Title: | Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management. |
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| Authors: | Benn P; University of Connecticut Health Center, Farmington, CT. Electronic address: benn@uchc.edu., Wang Y; Natera, Inc., Austin, TX., Gray J; Natera, Inc., Austin, TX., Dugan EK; Natera, Inc., Austin, TX., Hajjar M; Natera, Inc., Austin, TX., Prigmore B; Natera, Inc., Austin, TX., Souter V; Natera, Inc., Austin, TX., Wolf B; Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Emeritus, Departments of Medical Genetics and Pediatrics, Henry Ford Hospital, Detroit, MI. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Mar; Vol. 27 (3), pp. 101345. Date of Electronic Publication: 2024 Dec 14. |
| Publication Type: | Journal Article; Observational Study |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1530-0366 |
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| DOI: | 10.1016/j.gim.2024.101345 |
