Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec

Abstract 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 N...

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Autores principales: Lahoud Touma, Marjorie Labrecque, Martine Tetreault, Antoine Duquette
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Q
Acceso en línea:https://doaj.org/article/6e50f1f900934a1696d0141ebe30f70e
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