A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.

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Title: A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.
Authors: Olarewaju BA; School of Science and Engineering, University of Dundee, Nethergate, Dundee, UK., Tejon JB; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA., Abbas MT; Department of Cardiovascular Medicine, Mayo Clinic, Scottsdale, Arizona, USA., Shen JF; Department Ophthalmology, Mayo Clinic, Phoenix, Arizona, USA., Turkmani A; Department of Neurological Surgery, Mayo Clinic, Phoenix, Arizona, USA., Ellingson MS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Shen W; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Osundiji MA; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64098. Date of Electronic Publication: 2025 Apr 21.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE; In Process
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  Data: A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.
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  Data: <searchLink fieldCode="AU" term="%22Olarewaju+BA%22">Olarewaju BA</searchLink>; School of Science and Engineering, University of Dundee, Nethergate, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Tejon+JB%22">Tejon JB</searchLink>; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Abbas+MT%22">Abbas MT</searchLink>; Department of Cardiovascular Medicine, Mayo Clinic, Scottsdale, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Shen+JF%22">Shen JF</searchLink>; Department Ophthalmology, Mayo Clinic, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Turkmani+A%22">Turkmani A</searchLink>; Department of Neurological Surgery, Mayo Clinic, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Ellingson+MS%22">Ellingson MS</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Shen+W%22">Shen W</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Osundiji+MA%22">Osundiji MA</searchLink>; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64098. <i>Date of Electronic Publication: </i>2025 Apr 21.
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        Value: 10.1002/ajmg.a.64098
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        Text: English
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      – TitleFull: A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.
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              M: 09
              Text: 2025 Sep
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              Y: 2025
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