NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
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| Description | scientific article published on 15 September 2020 |
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author: Juliana I Santos Sandra Alves Isaura Ribeiro Maria-Teresa Cardoso Maria Francisca Coutinho Marisa Encarnação Soo Min Cho Lacerda L Elisa Leão Teles D Quelhas Laura Vilarinho Paulo Chaves |
| Publication date | September 15, 2020 |
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