CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.

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Bibliographic Details
Title: CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
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
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2023.107713