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A founder noncoding GALT variant interfering with splicing causes galactosemia.
Latchman K, Brown J, Sineni CJ, Ragin-Dames L, Guo S, Huang J, Thorson W, Hacker S, Barbouth D, Tekin M, Bademci G. Latchman K, et al. Among authors: huang j. J Inherit Metab Dis. 2020 Nov;43(6):1199-1204. doi: 10.1002/jimd.12293. Epub 2020 Aug 21. J Inherit Metab Dis. 2020. PMID: 32748411
FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.
Liao X, Ederveen THA, Niehues A, de Visser C, Huang J, Badmus F, Doornbos C, Orlova Y, Kulkarni P, van der Velde KJ, Swertz MA, Brandt M, van Gool AJ, 't Hoen PAC. Liao X, et al. Among authors: huang j. J Biomed Semantics. 2024 Dec 28;15(1):20. doi: 10.1186/s13326-024-00321-2. J Biomed Semantics. 2024. PMID: 39732721
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