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Article

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

Scientific reports - 14 May 2021

Touma Lahoud, Labrecque Marjorie, Tetreault Martine, Duquette Antoine

Abstract excerpt

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 NPC2 variants can be difficult. This study aims to identify potential pathogenic variants in a large cohort of...

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Identifiers

PMID: 33990640
DOI: 10.1038/s41598-021-89630-5
PMCID: PMC8121778

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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