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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2024.1435734 |
