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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
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English
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European journal of human genetics / European Society of Human Genetics. - Leiden | |
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Leiden : 2018
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1018-4813
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Volume/pages |
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26:11(2018), p. 1623-1634
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ISI |
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000447273900011
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Pubmed ID |
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29925855
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Project info |
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VIB-Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS). Solving the unsolved Rare Diseases (Solve-Rd).
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Publications with a UAntwerp address
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Creation |
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09.11.2018
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Last edited |
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30.01.2021
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