Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.

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Title: Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.
Authors: Gordon ER; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States., Sosonkina N; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Pugh J; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States., Cooper SJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.
Source: Frontiers in genetics [Front Genet] 2024 Dec 16; Vol. 15, pp. 1435734. Date of Electronic Publication: 2024 Dec 16 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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  Data: Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Gordon+ER%22">Gordon ER</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Felker+SA%22">Felker SA</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States.<br /><searchLink fieldCode="AU" term="%22Coleman+TF%22">Coleman TF</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Sosonkina+N%22">Sosonkina N</searchLink>; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Pugh+J%22">Pugh J</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Cochran+ME%22">Cochran ME</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States.<br /><searchLink fieldCode="AU" term="%22Cooper+SJ%22">Cooper SJ</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2024 Dec 16; Vol. 15, pp. 1435734. <i>Date of Electronic Publication: </i>2024 Dec 16 (<i>Print Publication: </i>2024).
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        Value: 10.3389/fgene.2024.1435734
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              Text: 2024 Dec 16
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