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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...
Tallennettuna:
| Julkaisussa: | Sci Rep |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group UK
2021
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8121778/ https://ncbi.nlm.nih.gov/pubmed/33990640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-89630-5 |
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