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Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

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Title: Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Authors: Bodenbender JP; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Marino V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy., Philipp J; Department of Otolaryngology-Head & Neck Surgery, Hearing Research Center, University of Tübingen Medical Center, Tübingen, Germany., Tropitzsch A; Department of Otolaryngology-Head & Neck Surgery, Hearing Research Center, University of Tübingen Medical Center, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Kernstock C; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Stingl K; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Kempf M; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Haack TB; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Zuleger T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Mazzola P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Dell'Orco D; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy., Kühlewein L; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. laura.kuehlewein@med.uni-tuebingen.de.; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. laura.kuehlewein@med.uni-tuebingen.de.
Source: Scientific reports [Sci Rep] 2024 May 08; Vol. 14 (1), pp. 10551. Date of Electronic Publication: 2024 May 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Observational Study
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Bodenbender+JP%22">Bodenbender JP</searchLink>; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Marino+V%22">Marino V</searchLink>; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Philipp+J%22">Philipp J</searchLink>; Department of Otolaryngology-Head & Neck Surgery, Hearing Research Center, University of Tübingen Medical Center, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Tropitzsch+A%22">Tropitzsch A</searchLink>; Department of Otolaryngology-Head & Neck Surgery, Hearing Research Center, University of Tübingen Medical Center, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kernstock+C%22">Kernstock C</searchLink>; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Stingl+K%22">Stingl K</searchLink>; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kempf+M%22">Kempf M</searchLink>; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Zuleger+T%22">Zuleger T</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Mazzola+P%22">Mazzola P</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Weisschuh+N%22">Weisschuh N</searchLink>; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Dell'Orco+D%22">Dell'Orco D</searchLink>; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Kühlewein+L%22">Kühlewein L</searchLink>; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. laura.kuehlewein@med.uni-tuebingen.de.; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. laura.kuehlewein@med.uni-tuebingen.de.
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