Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
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| Title: | Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. |
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| Authors: | Bodenbender JP; Department for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany., Marino V; Section of Biological Chemistry, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37124 Verona, Italy., Bethge L; Department for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany., Stingl K; Department for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany., Biskup S; Praxis für Humangenetik, 72076 Tübingen, Germany.; CeGaT GmbH, 72076 Tübingen, Germany., Kohl S; Department for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany., Kühlewein L; Department for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany., Dell'Orco D; Section of Biological Chemistry, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37124 Verona, Italy., Weisschuh N; Department for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2023 Jan 31; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 31. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1422-0067 |
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| DOI: | 10.3390/ijms24032709 |
