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Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec
Niemann–Pick disease type C (NPC) is a treatable autosomal recessive neurodegenerative condition which leads to a variety of progressive manifestations. Despite most cases being diagnosed at a young age, disease prevalence may be underestimated, especially in adults, and interpretation of NPC1 and N...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121778/ https://www.ncbi.nlm.nih.gov/pubmed/33990640 http://dx.doi.org/10.1038/s41598-021-89630-5 |