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Article

Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.

American journal of medical genetics. Part A - 1 Nov 2012

Fu Rao, Yanjanin Nicole M, Elrick Matthew J, Ware Christopher, Lieberman Andrew P, Porter Forbes D

Abstract excerpt

Niemann-Pick disease, type C1 (NPC1) is a lipid storage disorder that results in progressive neurological impairment. The NPC1 phenotype is extremely variable and at the individual level is likely influenced by other genetic traits. In addition to residual function of NPC1 protein, we hypothesize...

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Source

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Identifiers

PMID: 23023945
DOI: 10.1002/ajmg.a.35395
PMCID: PMC3477305

Genes

NPC1
MAPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23023945-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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