CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
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| Title: | CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing. |
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| Authors: | Steigerwald C; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY 10016, USA., Borsuk J; Division of Clinical Genetics, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA., Pappas J; Division of Clinical Genetics, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA., Galey M; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA., Scott A; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 08105, USA., Devaney JM; GeneDx, Gaithersburg, MD 20877, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, USA., Abreu NJ; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY 10016, USA. Electronic address: nicolas.abreu@nyulagone.org. |
| Source: | Molecular genetics and metabolism [Mol Genet Metab] 2023 Dec; Vol. 140 (4), pp. 107713. Date of Electronic Publication: 2023 Oct 30. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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