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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.
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
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  Data: Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.
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  Data: <searchLink fieldCode="AU" term="%22Benn+P%22">Benn P</searchLink>; University of Connecticut Health Center, Farmington, CT. Electronic address: benn@uchc.edu.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Natera, Inc., Austin, TX.<br /><searchLink fieldCode="AU" term="%22Gray+J%22">Gray J</searchLink>; Natera, Inc., Austin, TX.<br /><searchLink fieldCode="AU" term="%22Dugan+EK%22">Dugan EK</searchLink>; Natera, Inc., Austin, TX.<br /><searchLink fieldCode="AU" term="%22Hajjar+M%22">Hajjar M</searchLink>; Natera, Inc., Austin, TX.<br /><searchLink fieldCode="AU" term="%22Prigmore+B%22">Prigmore B</searchLink>; Natera, Inc., Austin, TX.<br /><searchLink fieldCode="AU" term="%22Souter+V%22">Souter V</searchLink>; Natera, Inc., Austin, TX.<br /><searchLink fieldCode="AU" term="%22Wolf+B%22">Wolf B</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Mar; Vol. 27 (3), pp. 101345. <i>Date of Electronic Publication: </i>2024 Dec 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.gim.2024.101345
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        Text: English
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              Text: 2025 Mar
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