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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

F Graeme Frost et al.
HAL (France) · Papers · License: Open Access
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alternative-splicingrare-diseases
Progressive spasticity, Monogenic diseases, Alternative splicing, Mendelian disorder, Gene discovery, Spliceosome, Rare diseases, 0
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Record · ID 284365
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